Variant #0000334510 (NC_000023.10:g.69478522C>T, P2RY4(NM_002565.3):c.953G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.69478522C>T
DNA change (hg38) g.70258672C>T
Published as P2RY4(NM_002565.3):c.953G>A (p.(Arg318His))
ISCN -
DB-ID P2RY4_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00158 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
P2RY4 NM_002565.3 ?/. - c.953G>A r.(?) p.(Arg318His)