Annotation Detail
Information
- Associated Genes
- BLM
- Associated Variants
-
BLM p.Thr298Met (p.T298M)
(
ENST00000681142.1,
ENST00000680772.1,
ENST00000560509.5,
ENST00000648453.1,
ENST00000355112.8 )
BLM p.Thr298Met (p.T298M) ( ENST00000355112.8, ENST00000560509.5, ENST00000648453.1, ENST00000680772.1, ENST00000681142.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000057.4(BLM):c.893C>T (p.Thr298Met) AND not specified
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 98308
- ClinVar RefSeq Alternation Syntax
- NM_001287247.2:c.893C>T
- ClinVar RefSeq Alternation Syntax
- NM_001287248.2:c.-399C>T
- ClinVar RefSeq Alternation Syntax
- NM_001287246.2:c.893C>T
- ClinVar RefSeq Alternation Syntax
- NM_000057.4:c.893C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-05-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000078062
Drugs