---
-
allele_string: A/G
assembly_name: GRCh38
colocated_variants:
-
allele_string: HGMD_MUTATION
end: 230710048
id: CM920010
phenotype_or_disease: 1
seq_region_name: 1
somatic: 1
start: 230710048
strand: 1
-
allele_string: COSMIC_MUTATION
end: 230710048
id: COSV64184214
phenotype_or_disease: 1
seq_region_name: 1
somatic: 1
start: 230710048
strand: 1
var_synonyms:
COSMIC:
- COSM425562
-
allele_string: A/G
clin_sig:
- benign
- risk_factor
clin_sig_allele: G:benign;G:risk_factor
end: 230710048
frequencies:
G:
af: '0.7051'
afr: '0.9032'
amr: '0.6354'
eas: '0.8532'
eur: '0.4115'
gnomade: '0.458'
gnomade_afr: '0.8474'
gnomade_amr: '0.7093'
gnomade_asj: '0.4336'
gnomade_eas: '0.8252'
gnomade_fin: '0.4365'
gnomade_mid: '0.5354'
gnomade_nfe: '0.4099'
gnomade_remaining: '0.4972'
gnomade_sas: '0.6154'
gnomadg: '0.5782'
gnomadg_afr: '0.8304'
gnomadg_ami: '0.4331'
gnomadg_amr: '0.6321'
gnomadg_asj: '0.4296'
gnomadg_eas: '0.8318'
gnomadg_fin: '0.4469'
gnomadg_mid: '0.4966'
gnomadg_nfe: '0.4207'
gnomadg_remaining: '0.553'
gnomadg_sas: '0.6217'
sas: '0.636'
id: rs699
phenotype_or_disease: 1
pubmed:
- 25741868
- 21467728
- 1394429
- 7649545
- 7883995
- 8348146
- 8513325
- 8518804
- 9259580
- 9421481
- 9831339
- 16059745
- 18069999
- 18248681
- 18279468
- 18513389
- 18603647
- 18637188
- 18653189
- 18698212
- 18953568
- 19108684
- 19131662
- 19263529
- 19330901
- 19559392
- 19770777
- 19932491
- 20029521
- 20047954
- 20061926
- 20185782
- 20486282
- 20570668
- 20577119
- 20592051
- 20811292
- 20981351
- 21056700
- 21058046
- 21127830
- 21146954
- 21261619
- 21304999
- 21306748
- 21438754
- 21444836
- 21515823
- 21533139
- 21540342
- 21573014
- 21681796
- 21894447
- 21919968
- 21988197
- 22099458
- 22100073
- 22531885
- 22569109
- 22817530
- 22858200
- 23021345
- 23036011
- 23132613
- 23133444
- 23205182
- 23251296
- 23287839
- 23333443
- 23354977
- 23497168
- 23681449
- 23716723
- 24452035
- 24622918
- 24722536
- 24737640
- 25361584
- 25474356
- 25512783
- 25683681
- 25723521
- 26102248
- 26283679
- 26318936
- 26335431
- 26509357
- 26588355
- 26621708
- 26627480
- 26818744
- 26819062
- 26824906
- 26933222
- 27068935
- 27274104
- 27342049
- 27348238
- 27380726
- 27454254
- 27480094
- 27584680
- 27616475
- 27940662
- 28361007
- 28488548
- 28605058
- 28666769
- 28690685
- 28770234
- 28828324
- 28881807
- 28903744
- 29057680
- 2952098
seq_region_name: 1
start: 230710048
strand: 1
var_synonyms:
ClinVar:
- RCV000019693
- RCV000019692
- RCV000019691
- VCV000018068
- RCV000242838
- RCV000405686
- RCV000835695
- RCV002259306
OMIM:
- '106150.0001'
PharmGKB:
- PA166153539
UniProt:
- VAR_007096
end: 230710048
id: rs699
input: rs699
most_severe_consequence: missense_variant
seq_region_name: 1
start: 230710048
strand: 1
transcript_consequences:
-
amino_acids: M/T
biotype: protein_coding
cdna_end: 843
cdna_start: 843
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000366667
variant_allele: G
-
biotype: lncRNA
consequence_terms:
- downstream_gene_variant
distance: 650
gene_id: ENSG00000244137
impact: MODIFIER
strand: -1
transcript_id: ENST00000412344
variant_allele: G
-
amino_acids: M/T
biotype: protein_coding
cdna_end: 1287
cdna_start: 1287
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000679684
variant_allele: G
-
amino_acids: M/T
biotype: nonsense_mediated_decay
cdna_end: 1366
cdna_start: 1366
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
- NMD_transcript_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000679738
variant_allele: G
-
amino_acids: M/T
biotype: nonsense_mediated_decay
cdna_end: 1287
cdna_start: 1287
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
- NMD_transcript_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000679802
variant_allele: G
-
biotype: retained_intron
cdna_end: 1287
cdna_start: 1287
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODIFIER
strand: -1
transcript_id: ENST00000679854
variant_allele: G
-
amino_acids: M/T
biotype: protein_coding
cdna_end: 1287
cdna_start: 1287
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000679957
variant_allele: G
-
amino_acids: M/T
biotype: protein_coding
cdna_end: 991
cdna_start: 991
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000680041
variant_allele: G
-
amino_acids: M/T
biotype: protein_coding
cdna_end: 1287
cdna_start: 1287
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000680783
variant_allele: G
-
amino_acids: M/T
biotype: protein_coding
cdna_end: 868
cdna_start: 868
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000681269
variant_allele: G
-
biotype: retained_intron
cdna_end: 1287
cdna_start: 1287
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODIFIER
strand: -1
transcript_id: ENST00000681347
variant_allele: G
-
amino_acids: M/T
biotype: protein_coding
cdna_end: 930
cdna_start: 930
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000681514
variant_allele: G
-
amino_acids: M/T
biotype: nonsense_mediated_decay
cdna_end: 1287
cdna_start: 1287
cds_end: 776
cds_start: 776
codons: aTg/aCg
consequence_terms:
- missense_variant
- NMD_transcript_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: HGNC:333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 259
protein_start: 259
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000681772
variant_allele: G