NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) AND Fanconi anemia complementation group A
- Germline classification:
- Pathogenic (6 submissions)
- Last evaluated:
- May 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000665186.16
Allele description [Variation Report for NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)]
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024