Annotation Detail
Information
- Associated Genes
- FANCA
- Associated Variants
-
FANCA c.596+5C>T
(
ENST00000534992.5,
ENST00000389301.8,
ENST00000568369.6,
ENST00000563673.5,
ENST00000564475.6,
ENST00000696287.1 )
FANCA c.596+5C>T ( ENST00000389301.8, ENST00000534992.5, ENST00000563673.5, ENST00000564475.6, ENST00000568369.6, ENST00000696287.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000135.4(FANCA):c.596+5C>T AND not provided
- ClinVar Allele ID
- 652777
- ClinVar RefSeq Alternation Syntax
- NM_001018112.3:c.596+5C>T
- ClinVar RefSeq Alternation Syntax
- NM_001286167.3:c.596+5C>T
- ClinVar RefSeq Alternation Syntax
- NM_000135.4:c.596+5C>T
- ClinVar RefSeq Alternation Syntax
- NM_001351830.2:c.500+5C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-06-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003478523
- ClinVar Disease
- not provided
- Observed Origin Sample
- unknown
Drugs