Variant #0000760933 (NC_012920.1:m.3632C>T, MT-ND1(NC_012920.1(ND1_v001)):c.326C>T)

Individual ID 00359600
Chromosome M
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) m.3632C>T
DNA change (hg38) m.3632C>T
Published as -
ISCN -
DB-ID MT-ND1_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Daniele Ghezzi
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniele Ghezzi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MT-ND1 NC_012920.1(ND1_v001) +/. - c.326C>T r.(326c>u) p.(Ser109Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360830 DNA SEQ blood whole mtDNA MT-ND1 1 Daniele Ghezzi