NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002482475.1
Allele description [Variation Report for NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)]
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)
Condition(s)
- Name:
- Fanconi anemia complementation group B (FANCB)
- Synonyms:
- FANCONI PANCYTOPENIA, TYPE 2
- Identifiers:
- MONDO: MONDO:0010351; MedGen: C1845292; Orphanet: 84; OMIM: 300514
- Name:
- VACTERL association, X-linked, with or without hydrocephalus (VACTERLX)
- Synonyms:
- VACTERL-H, X-LINKED; VACTERL Association with Hydrocephalus, X-linked; VACTERL association with hydrocephaly, X-linked; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010752; MedGen: C2931228; Orphanet: 3412; OMIM: 314390
Assertion and evidence details
Last Updated: Sep 29, 2024