ClinVar Genomic variation as it relates to human health
NM_001379270.1(CNGA1):c.610G>A (p.Asp204Asn)
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 | |||
CNGA1 | - | - |
GRCh38 GRCh37 |
13 | 496 | |
LOC101927157 | - | - | - | GRCh38 | - | 464 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 23, 2023 | RCV003152546.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 23, 2023