All variants in the MT-ND1 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+?/. - m.3460G>A r.(?) p.(?) - likely pathogenic m.3460G>A m.3460G>A MT-MD1 m.3460G>A - MT-ND1_000005 no protein change given, error in gene name, should be MT-ND1 instead of MT-MD1, mosaic PubMed: Zanolli 2020 - - Unknown ? - - 0 - LOVD
+/. - m.3460G>A r.(?) p.(Ala52Thr) - pathogenic m.3460G>A m.3460G>A MT-ND1 m.3460G>A, p.Ala52Thr - MT-ND1_000005 homoplasmic PubMed: Thorsteinsson 2021 - - Unknown ? - - 0 - LOVD
+/. - m.3460G>A r.(?) p.(Ala52Thr) - pathogenic m.3460G>A m.3460G>A MT-ND1 m.3460G>A, p.Ala52Thr - MT-ND1_000005 homoplasmic PubMed: Thorsteinsson 2021 - - Unknown ? - - 0 - LOVD
+/. - m.3460G>A r.(?) p.(Ala52Thr) - pathogenic m.3460G>A m.3460G>A MT-ND1 m.3460G>A, p.Ala52Thr - MT-ND1_000005 homoplasmic PubMed: Thorsteinsson 2021 - - Unknown ? - - 0 - LOVD
+/. - m.3460G>A r.(?) p.(Ala52Thr) - pathogenic m.3460G>A m.3460G>A MT-ND1 m.3460G>A, p.Ala52Thr - MT-ND1_000005 homoplasmic PubMed: Thorsteinsson 2021 - - Unknown ? - - 0 - LOVD
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