ClinVar Genomic variation as it relates to human health
NM_021096.4(CACNA1I):c.2695G>A (p.Gly899Arg)
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 | |||
CACNA1I | - | - |
GRCh38 GRCh37 |
292 | 312 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CACNA1I-related disorder
|
Benign (1) |
|
Aug 15, 2024 | RCV003954319.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024