Annotation Detail
Information
- Associated Genes
- FANCL
- Associated Variants
-
FANCL p.Ser288= (p.S288=)
(
ENST00000233741.9,
ENST00000402135.8,
ENST00000403295.8,
ENST00000427708.7,
ENST00000446381.6,
ENST00000449070.6,
ENST00000696305.1,
ENST00000696307.1,
ENST00000696316.1,
ENST00000696319.1,
ENST00000696326.1,
ENST00000696371.1,
ENST00000696434.1,
ENST00000696510.1,
ENST00000696530.1,
ENST00000696547.1,
ENST00000696567.1,
ENST00000696620.1,
ENST00000696624.1,
ENST00000696635.1 )
FANCL p.Ser288= (p.S288=) ( ENST00000233741.9, ENST00000402135.8, ENST00000403295.8, ENST00000427708.7, ENST00000446381.6, ENST00000449070.6, ENST00000696305.1, ENST00000696307.1, ENST00000696316.1, ENST00000696319.1, ENST00000696326.1, ENST00000696371.1, ENST00000696434.1, ENST00000696510.1, ENST00000696530.1, ENST00000696547.1, ENST00000696567.1, ENST00000696620.1, ENST00000696624.1, ENST00000696635.1 ) - Associated Disease
- Fanconi anemia
- Source Database
- ClinVar
- Description
- NM_018062.4(FANCL):c.804C>T (p.Ser268=) AND Fanconi anemia
- ClinVar Allele ID
- 1632709
- ClinVar RefSeq Alternation Syntax
- NM_018062.4:c.804C>T
- ClinVar RefSeq Alternation Syntax
- NM_001374615.1:c.849C>T
- ClinVar RefSeq Alternation Syntax
- NM_001410792.1:c.864C>T
- ClinVar RefSeq Alternation Syntax
- NM_001114636.2:c.819C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-07-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002169978
- ClinVar Disease
- Fanconi anemia
- Observed Origin Sample
- germline
Drugs