Unique variants in the P2RY8 gene

Information The variants shown are described using the NM_178129.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 2 c.54G>A r.(?) p.(=) - likely benign g.1585398C>T - R18R - P2RY8_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 2 c.141G>C r.(?) p.(=) - likely benign g.1585311C>G - V47V - P2RY8_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.*393G>A r.(=) p.(=) - likely benign g.1583979C>T - P2RY8:c.*393G>A - P2RY8_000003 - PubMed: Maranhao 2015 - - Germline - 6/25 families - - - LOVD
Legend   How to query