---
-
allele_string: T/G
assembly_name: GRCh38
colocated_variants:
-
allele_string: T/C/G
clin_sig:
- likely_pathogenic
- pathogenic
clin_sig_allele: G:pathogenic;G:pathogenic/likely_pathogenic;C:pathogenic
end: 8993
id: rs199476133
phenotype_or_disease: 1
pubmed:
- 25741868
- 24088041
- 26633545
- 26076356
- 8602753
- 1436530
- 1539598
- 1550128
- 2137962
- 3612192
- 8042671
- 8095070
- 8190310
- 8250532
- 8395787
- 8750605
- 9199572
- 9329425
- 9556461
- 9568930
- 9762610
- 9883875
- 10590437
- 10660580
- 10676807
- 10889120
- 11076946
- 11371515
- 11730668
- 11751691
- 11843698
- 11916326
- 11925565
- 14998933
- 16049925
- 17452590
- 17663470
- 18055910
- 19667215
- 8644724
- 37377599
- 38189974
seq_region_name: MT
start: 8993
strand: 1
var_synonyms:
ClinVar:
- RCV001268873
- RCV000854390
- RCV002247300
- RCV000754647
- RCV000495030
- RCV000010276
- RCV000010275
- VCV000009642
- RCV002285006
- RCV001542706
- RCV001376274
- RCV000754646
- RCV000495419
- RCV000414771
- RCV000224643
- RCV000191106
- RCV000010274
- RCV000010273
- VCV000009641
OMIM:
- '516060.0002'
- '516060.0001'
UniProt:
- VAR_000793
end: 8993
id: MT:g.8993T>G
input: MT:g.8993T>G
most_severe_consequence: missense_variant
seq_region_name: MT
start: 8993
strand: 1
transcript_consequences:
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 1066
gene_id: ENSG00000198840
gene_symbol: MT-ND3
gene_symbol_source: HGNC
hgnc_id: HGNC:7458
impact: MODIFIER
strand: 1
transcript_id: ENST00000361227
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 1477
gene_id: ENSG00000212907
gene_symbol: MT-ND4L
gene_symbol_source: HGNC
hgnc_id: HGNC:7460
impact: MODIFIER
strand: 1
transcript_id: ENST00000361335
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 1767
gene_id: ENSG00000198886
gene_symbol: MT-ND4
gene_symbol_source: HGNC
hgnc_id: HGNC:7459
impact: MODIFIER
strand: 1
transcript_id: ENST00000361381
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 4731
gene_id: ENSG00000198888
gene_symbol: MT-ND1
gene_symbol_source: HGNC
hgnc_id: HGNC:7455
impact: MODIFIER
strand: 1
transcript_id: ENST00000361390
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 3482
gene_id: ENSG00000198763
gene_symbol: MT-ND2
gene_symbol_source: HGNC
hgnc_id: HGNC:7456
impact: MODIFIER
strand: 1
transcript_id: ENST00000361453
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 3344
gene_id: ENSG00000198786
gene_symbol: MT-ND5
gene_symbol_source: HGNC
hgnc_id: HGNC:7461
impact: MODIFIER
strand: 1
transcript_id: ENST00000361567
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 1548
gene_id: ENSG00000198804
gene_symbol: MT-CO1
gene_symbol_source: HGNC
hgnc_id: HGNC:7419
impact: MODIFIER
strand: 1
transcript_id: ENST00000361624
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 724
gene_id: ENSG00000198712
gene_symbol: MT-CO2
gene_symbol_source: HGNC
hgnc_id: HGNC:7421
impact: MODIFIER
strand: 1
transcript_id: ENST00000361739
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 421
gene_id: ENSG00000228253
gene_symbol: MT-ATP8
gene_symbol_source: HGNC
hgnc_id: HGNC:7415
impact: MODIFIER
strand: 1
transcript_id: ENST00000361851
variant_allele: G
-
amino_acids: L/R
biotype: protein_coding
cdna_end: 467
cdna_start: 467
cds_end: 467
cds_start: 467
codons: cTg/cGg
consequence_terms:
- missense_variant
gene_id: ENSG00000198899
gene_symbol: MT-ATP6
gene_symbol_source: HGNC
hgnc_id: HGNC:7414
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.998'
protein_end: 156
protein_start: 156
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000361899
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 214
gene_id: ENSG00000198938
gene_symbol: MT-CO3
gene_symbol_source: HGNC
hgnc_id: HGNC:7422
impact: MODIFIER
strand: 1
transcript_id: ENST00000362079
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 4662
gene_id: ENSG00000210100
gene_symbol: MT-TI
gene_symbol_source: HGNC
hgnc_id: HGNC:7488
impact: MODIFIER
strand: 1
transcript_id: ENST00000387365
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 4593
gene_id: ENSG00000210107
gene_symbol: MT-TQ
gene_symbol_source: HGNC
hgnc_id: HGNC:7495
impact: MODIFIER
strand: -1
transcript_id: ENST00000387372
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 4524
gene_id: ENSG00000210112
gene_symbol: MT-TM
gene_symbol_source: HGNC
hgnc_id: HGNC:7492
impact: MODIFIER
strand: 1
transcript_id: ENST00000387377
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 3414
gene_id: ENSG00000210117
gene_symbol: MT-TW
gene_symbol_source: HGNC
hgnc_id: HGNC:7501
impact: MODIFIER
strand: 1
transcript_id: ENST00000387382
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 3338
gene_id: ENSG00000210127
gene_symbol: MT-TA
gene_symbol_source: HGNC
hgnc_id: HGNC:7475
impact: MODIFIER
strand: -1
transcript_id: ENST00000387392
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 3264
gene_id: ENSG00000210135
gene_symbol: MT-TN
gene_symbol_source: HGNC
hgnc_id: HGNC:7493
impact: MODIFIER
strand: -1
transcript_id: ENST00000387400
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 3167
gene_id: ENSG00000210140
gene_symbol: MT-TC
gene_symbol_source: HGNC
hgnc_id: HGNC:7477
impact: MODIFIER
strand: -1
transcript_id: ENST00000387405
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 3102
gene_id: ENSG00000210144
gene_symbol: MT-TY
gene_symbol_source: HGNC
hgnc_id: HGNC:7502
impact: MODIFIER
strand: -1
transcript_id: ENST00000387409
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 1479
gene_id: ENSG00000210151
gene_symbol: MT-TS1
gene_symbol_source: HGNC
hgnc_id: HGNC:7497
impact: MODIFIER
strand: -1
transcript_id: ENST00000387416
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 1408
gene_id: ENSG00000210154
gene_symbol: MT-TD
gene_symbol_source: HGNC
hgnc_id: HGNC:7478
impact: MODIFIER
strand: 1
transcript_id: ENST00000387419
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 629
gene_id: ENSG00000210156
gene_symbol: MT-TK
gene_symbol_source: HGNC
hgnc_id: HGNC:7489
impact: MODIFIER
strand: 1
transcript_id: ENST00000387421
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 998
gene_id: ENSG00000210164
gene_symbol: MT-TG
gene_symbol_source: HGNC
hgnc_id: HGNC:7486
impact: MODIFIER
strand: 1
transcript_id: ENST00000387429
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 1412
gene_id: ENSG00000210174
gene_symbol: MT-TR
gene_symbol_source: HGNC
hgnc_id: HGNC:7496
impact: MODIFIER
strand: 1
transcript_id: ENST00000387439
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 3145
gene_id: ENSG00000210176
gene_symbol: MT-TH
gene_symbol_source: HGNC
hgnc_id: HGNC:7487
impact: MODIFIER
strand: 1
transcript_id: ENST00000387441
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 3214
gene_id: ENSG00000210184
gene_symbol: MT-TS2
gene_symbol_source: HGNC
hgnc_id: HGNC:7498
impact: MODIFIER
strand: 1
transcript_id: ENST00000387449
variant_allele: G
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 3273
gene_id: ENSG00000210191
gene_symbol: MT-TL2
gene_symbol_source: HGNC
hgnc_id: HGNC:7491
impact: MODIFIER
strand: 1
transcript_id: ENST00000387456
variant_allele: G