Variant #0000577126 (NC_000023.10:g.69479041C>T, P2RY4(NM_002565.3):c.434G>A)

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.69479041C>T
DNA change (hg38) g.70259191C>T
Published as P2RY4(NM_002565.3):c.434G>A (p.R145H)
ISCN -
DB-ID P2RY4_000014
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) 3.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
P2RY4 NM_002565.3 -?/. - c.434G>A r.(?) p.(Arg145His)