RECQL4


RecQ protein-like 4

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

Diseases associated to this gene:
RAPADILINO

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
IVS7+2delT NM_004260 12952869
c.3214A>T R1072X NM_004260 12952869
c.3271C>T Q1091X NM_004260 12952869
c.806G>A W269X NM_004260 12952869


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
c.1397C>T P466L NM_004260 Unknown 18716613
c.1885del4 R629SfsX60 NM_004260 Unknown 18716613
c.1887del4 E630Afs59 NM_004260 Unknown 18716613
c.1910T>C F637S NM_004260 Unknown 18716613
c.2091T>G F697L NM_004260 Unknown 18716613
c.3072delA V1026CfsX18 NM_004260 Unknown 18716613
c.3599_3600delCG T1200RfsX26 NM_004260 Unknown 18716613