CC2D2A


COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
MKS

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
c.1339delG A447RfsX11 EU450799 Unknown 19777577
c.1538T>A W513X EU450799 French 19777577
c.1762C>T V587fs European 18513680
c.2486+1G>C potential missplicing EU450799 French 19777577
c.2673C>T R925X EU450799 French 19777577
c.3084delG K1029fs NM_001080522.2 Turkish, European 19466712, 19777577
c.3145C>G R1049X EU450799 Guadeloupean 19777577
c.3289delG V1097fs NM_001080522.2 European 19466712
c.3341C>T T1114M NM_001080522.2 European 19466712
c.3399-3C>A potential missplicing EU450799 French 19777577
c.3399_3975del A1134NfsX9 EU450799 Algerian 19777577
c.3522_3523insTG H1175CfsX13 EU450799 French 19777577
c.3975delA+1_3delGTA potential missplicing NM_001080522.2 European 19466712
c.4179+1delG potential missplicing EU450799 French 19777577
c.4179delG G1394fs NM_001080522.2 European 19466712
c.4496+2T>A potential missplicing EU450799 French 19777577
c.517C>T R173X EU450799 Mauritanian 19777577
c.834delG L279CfsX40 EU450799 American 19777577