ClinVar Genomic variation as it relates to human health
NM_052867.4(NALCN):c.1209C>T (p.Ser403=)
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 | |||
LOC126861831 | - | - | - | GRCh38 | - | 61 |
NALCN | - | - |
GRCh38 GRCh37 |
889 | 1077 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
NALCN-related disorder
|
Likely benign (1) |
|
Jan 22, 2024 | RCV004539197.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024