Annotation Detail
Information
- Associated Genes
- POLR1C XPO5
- Associated Variants
-
XPO5 p.Tyr1101= (p.Y1101=)
(
ENST00000304004.7,
ENST00000607635.2,
ENST00000643799.1,
ENST00000646433.1,
ENST00000265351.12 )
XPO5 p.Tyr1101= (p.Y1101=) ( ENST00000304004.7, ENST00000607635.2, ENST00000643799.1, ENST00000646433.1, ENST00000265351.12 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_020750.3(XPO5):c.3303C>T (p.Tyr1101=) AND not provided
- ClinVar Allele ID
- 1253612
- ClinVar RefSeq Alternation Syntax
- NR_144392.2:n.3615C>T
- ClinVar RefSeq Alternation Syntax
- NM_001363658.2:c.922+3792G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318876.2:c.922+3792G>A
- ClinVar RefSeq Alternation Syntax
- NM_020750.3:c.3303C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001667540
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs