ClinVar Genomic variation as it relates to human health
NM_002566.5(P2RY11):c.1008C>T (p.Pro336=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
P2RY11 | - | - |
GRCh38 GRCh37 |
- | 43 | |
PPAN-P2RY11 | - | - | - |
GRCh38 GRCh37 |
- | 52 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 16, 2019 | RCV003962079.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024