The FANCB gene homepage

A Fanconi anemia mutation database.
General information
Gene symbol FANCB
Gene name Fanconi anemia, complementation group B
Chromosome X
Chromosomal band p22.2
Imprinted Unknown
Genomic reference NG_007310.1
Transcript reference NM_001018113.1
Exon/intron information NM_001018113.1 exon/intron table
Associated with diseases FANCB, VACTERLX
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Arleen D. Auerbach
Total number of public variants reported 91
Unique public DNA variants reported 68
Individuals with public variants 32
Hidden variants 6
Notes Reference sequence NG_007310.1 is identical to LRG_496
Date created March 08, 2005
Date last updated February 26, 2024
Version FANCB:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001018113.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/FANCB
External URL Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 3583
Entrez Gene 2187
PubMed articles FANCB
OMIM - Gene 300515
OMIM - Diseases FANCB (Fanconi anemia, complementation group B (FANCB))
VACTERLX (VACTERL association with hydrocephaly, X-linked (VACTERLX))
HGMD FANCB
GeneCards FANCB
GeneTests FANCB
Orphanet FANCB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023815 X transcript variant 1 NM_001018113.1 NP_001018123.1 91


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