ClinVar Genomic variation as it relates to human health
NM_001378454.1(ALMS1):c.12030C>T (p.His4010=)
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 | |||
ALMS1 | - | - |
GRCh38 GRCh38 GRCh37 |
6177 | 6495 | |
LOC126806252 | - | - | - |
GRCh38 GRCh38 |
- | 304 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ALMS1-related disorder
|
Likely benign (1) |
|
Oct 16, 2019 | RCV003969297.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024