Variant #0000222871 (NC_000023.10:g.40456521C>T, ATP6AP2(NM_005765.2):c.321C>T)

Individual ID 00132794
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.40456521C>T
DNA change (hg38) g.40597269C>T
Published as -
ISCN -
DB-ID ATP6AP2_000007
Variant remarks variant not in 1200 control chromosomes
Reference PubMed: Ramser 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
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     
ATP6AP2 NM_005765.2 +/. 4 c.321C>T r.301_396del p.Ala101_Glu132del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133629 DNA DHPLC;RT-PCR;SEQ - - ATP6AP2 1 Johan den Dunnen