FANCB FA complementation group B

Gene ID: 2187, updated on 10-Oct-2024
Gene type: protein coding
Also known as: FA2; FAB; FACB; FAAP90; FAAP95

Summary

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Fanconi anemia complementation group B MedGen: C1845292OMIM: 300514GeneReviews: Fanconi Anemia	See labs
VACTERL association, X-linked, with or without hydrocephalus MedGen: C2931228OMIM: 314390GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-06-23) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-23) ClinGen Genome Curation PagePubMed

Genomic context

Location:: Xp22.2

Sequence:: Chromosome: X; NC_000023.11 (14689524..14873069, complement)

Total number of exons:: 16

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FANCB variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
FANCB @ LOVD
Fanconi Anaemia Mutation Database (FANCB)
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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