All variants in the MT-ND1 gene

Information The variants shown are described using the NC_012920.1(ND1_v001) transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.382G>A r.(?) p.(Ala128Thr) - pathogenic (dominant) m.3688G>A m.3688G>A - - MT-ND1_000002 homoplasmic Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - 0 - Johan den Dunnen
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