ClinVar Genomic variation as it relates to human health
NC_000019.10:g.(13206442_13207898)_(13214608_13224666)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 | |||
CACNA1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3371 | 3666 | |
LOC108663985 | - | - | - | GRCh38 | - | 33 |
LOC129391066 | - | - | - | GRCh38 | - | 16 |
LOC130063715 | - | - | - | GRCh38 | - | 17 |
LOC130063716 | - | - | - | GRCh38 | - | 15 |
LOC130063717 | - | - | - | GRCh38 | - | 81 |
LOC130063718 | - | - | - | GRCh38 | - | 16 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2009 | RCV000009046.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023
Deletion from gene CACNA1A including exons 39 through 47, plus flanking sequences.