ClinVar Genomic variation as it relates to human health
NM_000171.3(GLRA1):c.(?_-287)_697+?del
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 | |||
GLRA1 | - | - |
GRCh38 GRCh37 |
495 | 512 | |
LOC123575602 | - | - | - | GRCh38 | - | 6 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 4, 2012 | RCV000033897.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023
Deletion of exons 1-6 from GLRA1.