CFC1

cryptic, EGF-CFC family member 1

Summary

This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Known Variants23 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs587780888	2:131,350,507	G/C	—	benign
rs587780887	2:131,350,516	C/G	—	benign
rs587780886	2:131,350,522	C/A	—	benign
rs587780885	2:131,350,534	G/T	—	benign
rs1401586410	2:131,350,538	G/A	—	uncertain significance
rs746231039	2:131,350,600	—	—	pathogenic
rs776829911	2:131,350,638	A/G	—	benign
rs199715380	2:131,355,106	C/T	—	benign
rs104893611	2:131,355,469	G/A	missense variant	pathogenic
rs2467910272	2:131,355,472	C/T	—	uncertain significance
rs1685009791	2:131,356,227	C/T	—	uncertain significance
rs1318519716	2:131,356,230	G/A	—	likely benign
rs55791556	2:131,356,237	G/T	—	benign
rs1258754067	2:131,356,248	C/T	—	uncertain significance
rs746840737	2:131,356,251	C/G	—	likely benign
rs538404257	2:131,356,253	G/A	—	uncertain significance
rs371700198	2:131,356,258	C/A	—	uncertain significance
rs754887028	2:131,356,287	C/T	—	likely benign
rs201431919	2:131,356,322	C/T	—	benign
rs745944102	2:131,356,370	T/C	—	uncertain significance
rs200918108	2:131,356,493	A/G	—	benign
rs199607550	2:131,356,495	T/G	—	benign
rs1382891010	2:131,356,520	C/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.