Annotation Detail
Information
- Associated Genes
- POT1
- Associated Variants
-
POT1 c.1595-111A>G
(
ENST00000357628.8,
ENST00000393329.5,
ENST00000653241.1,
ENST00000654766.1,
ENST00000655761.1,
ENST00000664366.1,
ENST00000668382.1 )
POT1 c.1595-111A>G ( ENST00000357628.8, ENST00000393329.5, ENST00000653241.1, ENST00000654766.1, ENST00000655761.1, ENST00000664366.1, ENST00000668382.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_015450.3(POT1):c.1595-111A>G AND not provided
- ClinVar Allele ID
- 662153
- ClinVar RefSeq Alternation Syntax
- NM_015450.3:c.1595-111A>G
- ClinVar RefSeq Alternation Syntax
- NM_001042594.2:c.1202-111A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000836507
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs