ClinVar Genomic variation as it relates to human health
NM_133178.4(PTPRU):c.2008G>A (p.Ala670Thr)
Germline
Classification
(1)
Benign
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 | |||
PTPRU | - | - |
GRCh38 GRCh37 |
120 | 140 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
PTPRU-related disorder
|
Benign (1) |
|
Jun 13, 2024 | RCV003919407.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024