ClinVar Genomic variation as it relates to human health
NM_000173.7(GP1BA):c.420C>A (p.Gly140=)
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 | |||
GP1BA | - | - |
GRCh38 GRCh37 |
170 | 226 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
GP1BA-related disorder
|
Likely benign (1) |
|
Mar 30, 2022 | RCV003904565.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024