---
-
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
-
allele_string: A/G
clin_sig:
- benign
- risk_factor
clin_sig_allele: G:risk_factor;G:benign
end: 230710048
frequencies:
G:
af: '0.7051'
afr: '0.9032'
amr: '0.6354'
eas: '0.8532'
eur: '0.4115'
gnomade: '0.5481'
gnomade_afr: '0.8451'
gnomade_amr: '0.7196'
gnomade_asj: '0.44'
gnomade_eas: '0.8388'
gnomade_fin: '0.441'
gnomade_nfe: '0.4197'
gnomade_oth: '0.5002'
gnomade_sas: '0.6202'
gnomadg: '0.5778'
gnomadg_afr: '0.83'
gnomadg_ami: '0.4331'
gnomadg_amr: '0.6315'
gnomadg_asj: '0.4296'
gnomadg_eas: '0.8326'
gnomadg_fin: '0.4469'
gnomadg_mid: '0.519'
gnomadg_nfe: '0.4207'
gnomadg_oth: '0.5483'
gnomadg_sas: '0.6229'
sas: '0.636'
id: rs699
phenotype_or_disease: 1
seq_region_name: 1
start: 230710048
strand: 1
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