ClinVar Genomic variation as it relates to human health
NM_022369.4(STRA6):c.1135C>T (p.Leu379=)
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 | |||
LOC126862177 | - | - | - |
GRCh38 GRCh38 |
- | 19 |
STRA6 | - | - |
GRCh38 GRCh38 GRCh37 |
249 | 314 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 1, 2022 | RCV003394991.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024