ClinVar Genomic variation as it relates to human health
NM_002766.3(PRPSAP1):c.80C>G (p.Pro27Arg)
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 | |||
LOC130061724 | - | - | - | GRCh38 | - | 8 |
PRPSAP1 | - | - |
GRCh38 GRCh37 |
14 | 35 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 3, 2022 | RCV004157132.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024