ClinVar Genomic variation as it relates to human health
NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)
Germline
Classification
(1)
Pathogenic
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 | |||
BLOC1S5 | - | - |
GRCh38 GRCh37 |
2 | 55 | |
BLOC1S5-TXNDC5 | - | - | - | GRCh38 | - | 77 |
EEF1E1-BLOC1S5 | - | - | - | GRCh38 | - | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 26, 2024 | RCV003990246.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024