Variant #0000393209 (NC_000023.10:g.69478736T>C, P2RY4(NM_002565.3):c.739A>G)

Individual ID 00172469
Chromosome X
Allele Parent #1
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.69478736T>C
DNA change (hg38) g.70258886T>C
Published as -
ISCN -
DB-ID P2RY4_000008
Variant remarks recurrent, found 5 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 5/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03146 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
P2RY4 NM_002565.3 ?/. - c.739A>G r.(?) p.(Ile247Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173352 DNA SEQ - - P2RY4 1 Lucy Raymond