Variant #0000575908 (NC_000023.10:g.40440348G>C, ATP6AP2(NM_005765.2):c.31G>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.40440348G>C
DNA change (hg38) g.40581096G>C
Published as ATP6AP2(NM_005765.2):c.31G>C (p.(Val11Leu))
ISCN -
DB-ID ATP6AP2_000028
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6AP2 NM_005765.2 -?/. - c.31G>C r.(?) p.(Val11Leu)