Variant #0000629309 (NC_012920.1:m.3688G>A, MT-ND1(NC_012920.1(ND1_v001)):c.382G>A)

Individual ID 00274190
Chromosome M
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) m.3688G>A
DNA change (hg38) m.3688G>A
Published as -
ISCN -
DB-ID MT-ND1_000002
Variant remarks 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.
Reference PubMed: Pronicka 2016
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/113 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MT-ND1 NC_012920.1(ND1_v001) +/. - c.382G>A r.(?) p.(Ala128Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275345 DNA SEQ;SEQ-NG - WES MT-ND1 1 Johan den Dunnen