N58* (p.Asn58Ter) variant of FANCA (Fanconi anemia group A protein)
N58* (p.Asn58Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
N58* (p.Asn58Ter) variant details
- p.Asn58Ter
- rs2041096125
- ClinGen CA1139664997
- ClinVar RCV001256540
- ClinVar RCV003635953
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)