The CFC1 gene homepage

General information
Gene symbol CFC1
Gene name cripto, FRL-1, cryptic family 1
Chromosome 2
Chromosomal band q21.2
Imprinted Unknown
Genomic reference NG_008148.1
Transcript reference NM_001270420.1, NM_001270421.1, NM_032545.3
Associated with diseases CTHM, HTX-2, Transposition of the great arteries, dextro-looped 2
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 10
Unique public DNA variants reported 4
Individuals with public variants 10
Hidden variants -
Date created November 30, -0001
Date last updated September 20, 2016
Version CFC1:160920

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:18292
Entrez Gene 55997
PubMed articles CFC1
OMIM - Gene 605194
OMIM - Diseases CTHM (heart malformations,conotruncal (CTHM))
HTX-2 (heterotaxy, visceral, autosomal, type 2 (HTX-2, situs ambiguus))
Transposition of the great arteries, dextro-looped 2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00031288 2 transcript variant 1 NM_032545.3 NP_115934.1 10
00049444 2 transcript variant 2 NM_001270420.1 NP_001257349.1 10
00049445 2 transcript variant 3 NM_001270421.1 NP_001257350.1 7