Full data view for gene MT-ND1

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

21 entries on 1 page. Showing entries 1 - 21.
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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     
+/. - c.-1813C>T r.(?) p.(=) Unknown - pathogenic m.1494C>T - MT-RNR1(NC_012920.1):m.1494C>T - MT-CO1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 32 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
?/. - c.199A>G r.(?) p.(Thr67Ala) Maternal (inferred) - VUS m.3505A>G m.3505A>G ND1 - T67A, 3505 G - MT-ND1_000006 - PubMed: Widgren 2016 - - Unknown ? - - - - DNA CSGE, SEQ blood retrospective study retinal disease W2_18 PubMed: Widgren 2016 haplogroup W2, individual 18 - - - - - - - - 1 LOVD
?/. - c.199A>G r.(?) p.(Thr67Ala) Maternal (inferred) - VUS m.3505A>G m.3505A>G ND1 - T67A, 3505 G - MT-ND1_000006 - PubMed: Widgren 2016 - - Unknown ? - - - - DNA CSGE, SEQ blood retrospective study retinal disease W1_27 PubMed: Widgren 2016 haplogroup W1, individual 27 - - - - - - - - 1 LOVD
?/. - c.199A>G r.(?) p.(Thr67Ala) Maternal (inferred) - VUS m.3505A>G m.3505A>G ND1 - T67A, 3505 G - MT-ND1_000006 - PubMed: Widgren 2016 - - Unknown ? - - - - DNA CSGE, SEQ blood retrospective study STGD W1_16 PubMed: Widgren 2016 haplogroup W1, individual 16 - - - - - - - - 1 LOVD
+/. - c.326C>T r.(326c>u) p.(Ser109Phe) Maternal (confirmed) - VUS m.3632C>T m.3632C>T - - MT-ND1_000003 - - - - Germline - - - - - 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 - - - DNA SEQ, SEQ-NG - WES ? Pat64 PubMed: Pronicka 2016 - F - Poland - - - - - 1 Johan den Dunnen
+?/. - c.404C>T r.(?) p.(Ala135Val) Unknown ACMG VUS m.3710C>T m.3710C>T - - MT-ND1_000008 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG blood - ? - - - F - Brazil - - - - - 1 Juliana Mazzeu
?/. - c.560T>C r.(?) p.(Ile187Thr) Maternal (inferred) - VUS m.3866T>C m.3866T>C ND1 - I187T, 3866 C - MT-ND1_000007 - PubMed: Widgren 2016 - - Unknown ? - - - - DNA CSGE, SEQ blood retrospective study retinal disease J_9 PubMed: Widgren 2016 haplogroup J, individual 9 - - - - - - - - 1 LOVD
+/. - 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 - - - DNA SEQ, SEQ-NG - WES ? Pat22 PubMed: Pronicka 2016 - M - Poland - - - - - 1 Johan den Dunnen
-/. - c.*33A>G r.(=) p.(=) Unknown - benign m.4295A>G - MT-TI(NC_012920.1):m.4295A>G - MT-CO1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 79 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 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 ? - - - - DNA SEQ-NG - retrospective analysis retinal disease LHON1 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 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 ? - - - - DNA SEQ-NG - retrospective analysis retinal disease LHON2 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 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 ? - - - - DNA SEQ-NG - retrospective analysis retinal disease LHON3 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 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 ? - - - - DNA SEQ-NG - retrospective analysis retinal disease LHON4 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
?/. - c.*3748T>C r.(=) p.(=) Unknown - VUS m.8010T>C - MT-CO2(ENST00000361739.1):c.425T>C (p.(Val142Ala)) - MT-CO1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4265A>G r.(=) p.(=) Unknown - likely benign m.8527A>G - MT-ATP6(ENST00000361899.2):c.1A>G (p.(Met1?)) - MT-CO1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5542G>A r.(=) p.(=) Unknown - likely benign m.9804G>A - MT-CO3(ENST00000362079.2):c.598G>A (p.(Ala200Thr)) - MT-CO1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10017G>A r.(=) p.(=) Unknown - VUS m.14279G>A - MT-ND6(ENST00000361681.2):c.395C>T (p.(Ser132Leu)) - MT-CO1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*10643G>A r.(=) p.(=) Unknown - benign m.14905G>A - MT-CYB(NC_012920.1):m.14905G>A (p.M53=) - MT-CO1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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