ClinVar Genomic variation as it relates to human health
NM_006262.4(PRPH):c.919C>T (p.Gln307Ter)
Germline
Classification
(1)
Likely pathogenic
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 | |||
LOC124629354 | - | - | - | GRCh38 | - | 18 |
PRPH | - | - |
GRCh38 GRCh37 |
1 | 82 | |
TROAP-AS1 | - | - | - | GRCh38 | - | 78 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV004547323.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024