Full data view for gene MT-ND1

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - m.? r.(?) p.(?) Unknown - likely pathogenic g.? g.? Mt deletion 4400 BP - MT-ND1_000004 no protein change given, error in annotation, no mitochondrial gene/site indicated, mosaic PubMed: Zanolli 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood targeted sequencing retinal disease 32 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - 0 - - 1 LOVD
+/. - c.326C>T r.(326c>u) p.(Ser109Phe) Maternal (confirmed) - VUS m.3632C>T m.3632C>T - - MT-ND1_000003 - - - - Germline - - - 0 - DNA SEQ blood whole mtDNA LHON - - - M no Italy - - - - - 1 Daniele Ghezzi
+/. - c.382G>A r.(?) p.(Ala128Thr) Both (homozygous) - 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 - DNA SEQ, SEQ-NG - WES ? Pat64 PubMed: Pronicka 2016 - F - Poland - - 0 - - 1 Johan den Dunnen
+/. - c.596_602inv r.(?) p.? Unknown - pathogenic (dominant) m.3902_3908inv m.3902_3908inv m.3902_3908invACCTTGC - MT-ND1_000001 heteroplasmic 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 - - De novo - 1/113 cases - 0 - DNA SEQ, SEQ-NG - WES ? Pat22 PubMed: Pronicka 2016 - M - Poland - - 0 - - 1 Johan den Dunnen
+?/. - m.3460G>A r.(?) p.(?) Unknown - 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 - DNA SEQ-NG blood targeted sequencing retinal disease 79 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - 0 - - 1 LOVD
+/. - m.3460G>A r.(?) p.(Ala52Thr) Unknown - pathogenic m.3460G>A m.3460G>A MT-ND1 m.3460G>A, p.Ala52Thr - MT-ND1_000005 homoplasmic PubMed: Thorsteinsson 2021 - - Unknown ? - - 0 - DNA SEQ-NG - retrospective analysis retinal disease LHON1 PubMed: Thorsteinsson 2021 - ? - Iceland - - 0 - - 1 LOVD
+/. - m.3460G>A r.(?) p.(Ala52Thr) Unknown - pathogenic m.3460G>A m.3460G>A MT-ND1 m.3460G>A, p.Ala52Thr - MT-ND1_000005 homoplasmic PubMed: Thorsteinsson 2021 - - Unknown ? - - 0 - DNA SEQ-NG - retrospective analysis retinal disease LHON2 PubMed: Thorsteinsson 2021 - ? - Iceland - - 0 - - 1 LOVD
+/. - m.3460G>A r.(?) p.(Ala52Thr) Unknown - pathogenic m.3460G>A m.3460G>A MT-ND1 m.3460G>A, p.Ala52Thr - MT-ND1_000005 homoplasmic PubMed: Thorsteinsson 2021 - - Unknown ? - - 0 - DNA SEQ-NG - retrospective analysis retinal disease LHON3 PubMed: Thorsteinsson 2021 - ? - Iceland - - 0 - - 1 LOVD
+/. - m.3460G>A r.(?) p.(Ala52Thr) Unknown - pathogenic m.3460G>A m.3460G>A MT-ND1 m.3460G>A, p.Ala52Thr - MT-ND1_000005 homoplasmic PubMed: Thorsteinsson 2021 - - Unknown ? - - 0 - DNA SEQ-NG - retrospective analysis retinal disease LHON4 PubMed: Thorsteinsson 2021 - ? - Iceland - - 0 - - 1 LOVD
-/. - c.*4598A>G r.(=) p.(=) Unknown - benign m.8860A>G g.8859C>G MT-ATP6(NC_012920.1):m.8860A>G (p.T112A) - MT-CO1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*11064A>G r.(=) p.(=) Unknown - benign m.15326A>G - MT-CYB(NC_012920.1):m.15326A>G (p.T194A) - MT-CO1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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