M1C (p.Met1Cys) variant of FANCA (Fanconi anemia group A protein)
M1C (p.Met1Cys) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
M1C (p.Met1Cys) variant details
- p.Met1Cys
- rs2544395419
- ClinGen CA2580092356
- ClinVar RCV003079207
- Pathogenic
- Missense
- 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)