ClinVar Genomic variation as it relates to human health
NM_001164760.2(PRKAR1B):c.500_501inv (p.Gln167Leu)
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
PRKAR1B | - | - |
GRCh38 GRCh37 |
89 | 318 | |
PRKAR1B-AS1 | - | - | - | GRCh38 | - | 33 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 23, 2021 | RCV001799132.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2023