---
-
allele_string: T/C
assembly_name: GRCh38
colocated_variants:
-
allele_string: T/C
clin_sig:
- uncertain_significance
clin_sig_allele: C:uncertain_significance
end: 7965
id: rs1556423369
phenotype_or_disease: 1
seq_region_name: MT
start: 7965
strand: 1
var_synonyms:
ClinVar:
- RCV000509036
- VCV000440835
end: 7965
id: MT:g.7965T>C
input: MT:g.7965T>C
most_severe_consequence: missense_variant
seq_region_name: MT
start: 7965
strand: 1
transcript_consequences:
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 2094
gene_id: ENSG00000198840
gene_symbol: MT-ND3
gene_symbol_source: HGNC
hgnc_id: HGNC:7458
impact: MODIFIER
strand: 1
transcript_id: ENST00000361227
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 2505
gene_id: ENSG00000212907
gene_symbol: MT-ND4L
gene_symbol_source: HGNC
hgnc_id: HGNC:7460
impact: MODIFIER
strand: 1
transcript_id: ENST00000361335
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 2795
gene_id: ENSG00000198886
gene_symbol: MT-ND4
gene_symbol_source: HGNC
hgnc_id: HGNC:7459
impact: MODIFIER
strand: 1
transcript_id: ENST00000361381
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 3703
gene_id: ENSG00000198888
gene_symbol: MT-ND1
gene_symbol_source: HGNC
hgnc_id: HGNC:7455
impact: MODIFIER
strand: 1
transcript_id: ENST00000361390
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 2454
gene_id: ENSG00000198763
gene_symbol: MT-ND2
gene_symbol_source: HGNC
hgnc_id: HGNC:7456
impact: MODIFIER
strand: 1
transcript_id: ENST00000361453
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 4372
gene_id: ENSG00000198786
gene_symbol: MT-ND5
gene_symbol_source: HGNC
hgnc_id: HGNC:7461
impact: MODIFIER
strand: 1
transcript_id: ENST00000361567
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 520
gene_id: ENSG00000198804
gene_symbol: MT-CO1
gene_symbol_source: HGNC
hgnc_id: HGNC:7419
impact: MODIFIER
strand: 1
transcript_id: ENST00000361624
variant_allele: C
-
amino_acids: F/S
biotype: protein_coding
cdna_end: 380
cdna_start: 380
cds_end: 380
cds_start: 380
codons: tTc/tCc
consequence_terms:
- missense_variant
gene_id: ENSG00000198712
gene_symbol: MT-CO2
gene_symbol_source: HGNC
hgnc_id: HGNC:7421
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.995'
protein_end: 127
protein_start: 127
sift_prediction: deleterious_low_confidence
sift_score: '0.03'
strand: 1
transcript_id: ENST00000361739
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 401
gene_id: ENSG00000228253
gene_symbol: MT-ATP8
gene_symbol_source: HGNC
hgnc_id: HGNC:7415
impact: MODIFIER
strand: 1
transcript_id: ENST00000361851
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 562
gene_id: ENSG00000198899
gene_symbol: MT-ATP6
gene_symbol_source: HGNC
hgnc_id: HGNC:7414
impact: MODIFIER
strand: 1
transcript_id: ENST00000361899
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 1242
gene_id: ENSG00000198938
gene_symbol: MT-CO3
gene_symbol_source: HGNC
hgnc_id: HGNC:7422
impact: MODIFIER
strand: 1
transcript_id: ENST00000362079
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 4661
gene_id: ENSG00000209082
gene_symbol: MT-TL1
gene_symbol_source: HGNC
hgnc_id: HGNC:7490
impact: MODIFIER
strand: 1
transcript_id: ENST00000386347
variant_allele: C
-
biotype: Mt_rRNA
consequence_terms:
- downstream_gene_variant
distance: 4736
gene_id: ENSG00000210082
gene_symbol: MT-RNR2
gene_symbol_source: HGNC
hgnc_id: HGNC:7471
impact: MODIFIER
strand: 1
transcript_id: ENST00000387347
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 3634
gene_id: ENSG00000210100
gene_symbol: MT-TI
gene_symbol_source: HGNC
hgnc_id: HGNC:7488
impact: MODIFIER
strand: 1
transcript_id: ENST00000387365
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 3565
gene_id: ENSG00000210107
gene_symbol: MT-TQ
gene_symbol_source: HGNC
hgnc_id: HGNC:7495
impact: MODIFIER
strand: -1
transcript_id: ENST00000387372
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 3496
gene_id: ENSG00000210112
gene_symbol: MT-TM
gene_symbol_source: HGNC
hgnc_id: HGNC:7492
impact: MODIFIER
strand: 1
transcript_id: ENST00000387377
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 2386
gene_id: ENSG00000210117
gene_symbol: MT-TW
gene_symbol_source: HGNC
hgnc_id: HGNC:7501
impact: MODIFIER
strand: 1
transcript_id: ENST00000387382
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 2310
gene_id: ENSG00000210127
gene_symbol: MT-TA
gene_symbol_source: HGNC
hgnc_id: HGNC:7475
impact: MODIFIER
strand: -1
transcript_id: ENST00000387392
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 2236
gene_id: ENSG00000210135
gene_symbol: MT-TN
gene_symbol_source: HGNC
hgnc_id: HGNC:7493
impact: MODIFIER
strand: -1
transcript_id: ENST00000387400
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 2139
gene_id: ENSG00000210140
gene_symbol: MT-TC
gene_symbol_source: HGNC
hgnc_id: HGNC:7477
impact: MODIFIER
strand: -1
transcript_id: ENST00000387405
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 2074
gene_id: ENSG00000210144
gene_symbol: MT-TY
gene_symbol_source: HGNC
hgnc_id: HGNC:7502
impact: MODIFIER
strand: -1
transcript_id: ENST00000387409
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 451
gene_id: ENSG00000210151
gene_symbol: MT-TS1
gene_symbol_source: HGNC
hgnc_id: HGNC:7497
impact: MODIFIER
strand: -1
transcript_id: ENST00000387416
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- downstream_gene_variant
distance: 380
gene_id: ENSG00000210154
gene_symbol: MT-TD
gene_symbol_source: HGNC
hgnc_id: HGNC:7478
impact: MODIFIER
strand: 1
transcript_id: ENST00000387419
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 330
gene_id: ENSG00000210156
gene_symbol: MT-TK
gene_symbol_source: HGNC
hgnc_id: HGNC:7489
impact: MODIFIER
strand: 1
transcript_id: ENST00000387421
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 2026
gene_id: ENSG00000210164
gene_symbol: MT-TG
gene_symbol_source: HGNC
hgnc_id: HGNC:7486
impact: MODIFIER
strand: 1
transcript_id: ENST00000387429
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 2440
gene_id: ENSG00000210174
gene_symbol: MT-TR
gene_symbol_source: HGNC
hgnc_id: HGNC:7496
impact: MODIFIER
strand: 1
transcript_id: ENST00000387439
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 4173
gene_id: ENSG00000210176
gene_symbol: MT-TH
gene_symbol_source: HGNC
hgnc_id: HGNC:7487
impact: MODIFIER
strand: 1
transcript_id: ENST00000387441
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 4242
gene_id: ENSG00000210184
gene_symbol: MT-TS2
gene_symbol_source: HGNC
hgnc_id: HGNC:7498
impact: MODIFIER
strand: 1
transcript_id: ENST00000387449
variant_allele: C
-
biotype: Mt_tRNA
consequence_terms:
- upstream_gene_variant
distance: 4301
gene_id: ENSG00000210191
gene_symbol: MT-TL2
gene_symbol_source: HGNC
hgnc_id: HGNC:7491
impact: MODIFIER
strand: 1
transcript_id: ENST00000387456
variant_allele: C