Annotation Detail
Information
- Associated Genes
- FANCM
- Associated Variants
-
FANCM p.Glu471Lys (p.E471K)
(
ENST00000267430.10,
ENST00000556036.6,
ENST00000542564.6,
ENST00000556250.6,
ENST00000696643.1,
ENST00000696649.1,
ENST00000696662.1,
ENST00000696682.1 )
FANCM p.Glu471Lys (p.E471K) ( ENST00000267430.10, ENST00000542564.6, ENST00000556036.6, ENST00000556250.6, ENST00000696643.1, ENST00000696649.1, ENST00000696662.1, ENST00000696682.1 ) - Associated Disease
- spermatogenic failure 28 Premature ovarian failure 15
- Source Database
- ClinVar
- Description
- NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) AND multiple conditions
- ClinVar Allele ID
- 642385
- ClinVar RefSeq Alternation Syntax
- NM_001308133.2:c.1333G>A
- ClinVar RefSeq Alternation Syntax
- NM_001308134.2:c.1411G>A
- ClinVar RefSeq Alternation Syntax
- NM_020937.4:c.1411G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-12-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002487632
- ClinVar Disease
- Spermatogenic failure 28
- ClinVar Disease
- Premature ovarian failure 15
- Observed Origin Sample
- unknown
Drugs