NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002484554.1
Allele description [Variation Report for NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)]
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)
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
-
Crip3 cysteine-rich protein 3 [Mus musculus]
Crip3 cysteine-rich protein 3 [Mus musculus]Gene ID:114570Gene
-
114570[uid] AND (alive[prop]) (1)
Gene
-
PREDICTED: Mus musculus predicted gene, 34081 (Gm34081), transcript variant X12,...
PREDICTED: Mus musculus predicted gene, 34081 (Gm34081), transcript variant X12, ncRNAgi|755569361|ref|XR_882649.1|Nucleotide
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Last Updated: Sep 29, 2024