---
-
allele_string: A/T
assembly_name: GRCh38
colocated_variants:
-
allele_string: HGMD_MUTATION
end: 5227002
id: CD830010
phenotype_or_disease: 1
seq_region_name: 11
start: 5227002
strand: 1
-
allele_string: HGMD_MUTATION
end: 5227002
id: CM097155
phenotype_or_disease: 1
seq_region_name: 11
start: 5227002
strand: 1
-
allele_string: HGMD_MUTATION
end: 5227002
id: CM880038
phenotype_or_disease: 1
seq_region_name: 11
start: 5227002
strand: 1
-
allele_string: T/A/C/G
clin_sig:
- not_provided
- likely_benign
- pathogenic
- other
- protective
clin_sig_allele: A:other;A:pathogenic;G:other;A:protective;A:not_provided;G:likely_benign
clin_sig_ref_allele: T
end: 5227002
frequencies:
T:
af: '0.0274'
afr: '0.0998'
amr: '0.0072'
eas: 0
eur: 0
gnomade: '0.001601'
gnomade_afr: '0.05687'
gnomade_amr: '0.002437'
gnomade_asj: 0
gnomade_eas: 0
gnomade_fin: 0
gnomade_mid: '0.003994'
gnomade_nfe: '3.156e-05'
gnomade_remaining: '0.003334'
gnomade_sas: '0.0008119'
gnomadg: '0.01272'
gnomadg_afr: '0.04356'
gnomadg_ami: 0
gnomadg_amr: '0.005882'
gnomadg_asj: 0
gnomadg_eas: 0
gnomadg_fin: 0
gnomadg_mid: 0
gnomadg_nfe: '0.0001617'
gnomadg_remaining: '0.007102'
gnomadg_sas: '0.002279'
sas: 0
id: rs334
phenotype_or_disease: 1
pubmed:
- 25741868
- 20585394
- 21992066
- 20556870
- 24592274
- 33857205
- 22905743
- 23316245
- 19465909
- 25805752
- 25087612
- 21867552
- 22615793
- 22957039
- 23144702
- 29033373
- 17668374
- 22947458
- 33593344
- 24934404
- 26744416
- 28912365
- 26215182
- 26314886
- 35724382
- 31080455
- 28453575
- 31675503
- 35611053
- 34090531
- 31448710
- 28067620
- 32641076
- 27022141
- 29523850
- 27219052
- 22673309
- 24626632
- 19145247
- 19039607
- 19281305
- 27185208
- 18829352
- 27236921
- 28716248
- 28975602
- 33357513
- 81926
- 893143
- 909565
- 1225575
- 1301203
- 1376298
- 1634360
- 1986365
- 2189492
- 2296310
- 2579336
- 2891298
- 2893541
- 2898142
- 2898460
- 2930724
- 3048433
- 3191036
- 3354556
- 3467311
- 3690667
- 3752087
- 3821796
- 4232783
- 5069596
- 5490239
- 5509617
- 5658717
- 5928902
- 6166632
- 6268660
- 6272289
- 6280057
- 6285354
- 6583683
- 6584911
- 7993409
- 8199597
- 8462981
- 9166865
- 9834244
- 9859938
- 10203101
- 11741197
- 11830454
- 11880644
- 12403489
- 13066514
- 13115700
- 13369537
- 13464827
- 13852872
- 13943409
- 15182055
- 15395398
- 15470216
- 16001361
- 17287491
- 17688704
- 18048408
- 18192399
- 19223928
- 20128890
- 20226094
- 20305663
- 20552021
- 21529713
- 22075726
- 27351925
- 29526279
- 31213470
- 31941490
seq_region_name: 11
start: 5227002
strand: 1
var_synonyms:
ClinVar:
- RCV003407340
- RCV001192494
- RCV001255121
- RCV001535873
- RCV000723337
- RCV000623118
- RCV003150808
- RCV001824571
- RCV002251908
- RCV002288496
- RCV000477892
- RCV000576548
- RCV000016879
- VCV000446748
- RCV000016877
- VCV000446747
- RCV000016580
- VCV000446738
- RCV000016579
- VCV000446737
- RCV000016577
- VCV000446736
- RCV000016576
- VCV000446735
- RCV000016575
- RCV000016574
- RCV000016573
- VCV000015333
- RCV000016286
- VCV000446730
- RCV000030905
- VCV000446731
- RCV000224000
- RCV005229802
- RCV005357130
- RCV005049354
- RCV003989286
- RCV003234907
- RCV000016352
- VCV000015175
HbVar:
- 2580
- 226
- 228
OMIM:
- '141900.0243'
- '141900.0085'
PharmGKB:
- PA166418941
UniProt:
- VAR_002862
end: 5227002
id: NM_000518.5:c.20A>T
input: NM_000518.5:c.20A>T
most_severe_consequence: missense_variant
seq_region_name: 11
start: 5227002
strand: -1
transcript_consequences:
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 70
cdna_start: 70
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00000335295
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 250
cdna_start: 250
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
flags:
- cds_end_NF
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00000380315
variant_allele: T
-
biotype: ribozyme
consequence_terms:
- upstream_gene_variant
distance: 2363
gene_id: ENSG00000221031
impact: MODIFIER
strand: -1
transcript_id: ENST00000408104
variant_allele: T
-
biotype: retained_intron
consequence_terms:
- upstream_gene_variant
distance: 179
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODIFIER
strand: -1
transcript_id: ENST00000475226
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 196
cdna_start: 196
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00000485743
variant_allele: T
-
amino_acids: E/V
biotype: nonsense_mediated_decay
cdna_end: 70
cdna_start: 70
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
- NMD_transcript_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
polyphen_prediction: possibly_damaging
polyphen_score: '0.617'
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00000633227
variant_allele: T
-
biotype: TEC
consequence_terms:
- upstream_gene_variant
distance: 1541
gene_id: ENSG00000285498
impact: MODIFIER
strand: -1
transcript_id: ENST00000644706
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 196
cdna_start: 196
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00000647020
variant_allele: T
-
biotype: lncRNA
consequence_terms:
- intron_variant
- non_coding_transcript_variant
gene_id: ENSG00000298932
impact: MODIFIER
strand: 1
transcript_id: ENST00000759072
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 144
cdna_start: 144
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00000883533
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 94
cdna_start: 94
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098717
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 131
cdna_start: 131
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098718
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 196
cdna_start: 196
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00001098719
variant_allele: T
-
amino_acids: E/V
biotype: nonsense_mediated_decay
cdna_end: 74
cdna_start: 74
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
- NMD_transcript_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098720
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 72
cdna_start: 72
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098721
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 72
cdna_start: 72
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098722
variant_allele: T
-
amino_acids: E/V
biotype: nonsense_mediated_decay
cdna_end: 72
cdna_start: 72
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
- NMD_transcript_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098723
variant_allele: T
-
amino_acids: E/V
biotype: nonsense_mediated_decay
cdna_end: 71
cdna_start: 71
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
- NMD_transcript_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098724
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 196
cdna_start: 196
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098725
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 196
cdna_start: 196
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098726
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 196
cdna_start: 196
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098727
variant_allele: T
-
amino_acids: E/V
biotype: protein_coding
cdna_end: 196
cdna_start: 196
cds_end: 20
cds_start: 20
codons: gAg/gTg
consequence_terms:
- missense_variant
gene_id: ENSG00000244734
gene_symbol: HBB
gene_symbol_source: HGNC
hgnc_id: HGNC:4827
impact: MODERATE
protein_end: 7
protein_start: 7
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: -1
transcript_id: ENST00001098728
variant_allele: T