Annotation Detail
Information
- Associated Genes
- RTEL1 RTEL1-TNFRSF6B
- Associated Variants
-
RTEL1 c.1191+227T>C, RTEL1-TNFRSF6B c.1275+227T>C
(
ENST00000318100.9,
ENST00000360203.11,
ENST00000370018.7,
ENST00000508582.7,
ENST00000492259.6 )
RTEL1 c.1191+227T>C, RTEL1-TNFRSF6B c.1275+227T>C ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001283009.2(RTEL1):c.1191+227T>C AND not provided
- ClinVar Allele ID
- 1213174
- ClinVar RefSeq Alternation Syntax
- NM_032957.5:c.1263+227T>C
- ClinVar RefSeq Alternation Syntax
- NM_016434.4:c.1191+227T>C
- ClinVar RefSeq Alternation Syntax
- NM_001283010.1:c.522+227T>C
- ClinVar RefSeq Alternation Syntax
- NM_001283009.2:c.1191+227T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001594586
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs