MKS1


Meckel syndrome type 1 protein

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
IVS15-7_35del G470fsX562 17377820, 17935508, 17437276, 16415886, 17397051
c.392_393delCT S131X NM_017777.2 19466712
c.496C>T R166W NM_017777.2 19466712


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
50insCCGGG P17fsX163 German 16415886
IVS1+2T>C splice site mutation German 16415886
IVS11+1G>A predicted to skip exon 11 V320_H342delinsD European, American 17377820
IVS15-7_35del G470fsX562 French, English, German, American 17377820, 17935508, 17437276, 16415886, 17397051
c.1048C>G Q350X DQ185029.1 Palestinian 17397051
c.1048C>T Q350X DQ185029.1 Palestinian 17397051
c.1407+2delT potential missplicing DQ185029.1 Turkish 17437276
c.1448_1451dupCAGG G484GfsX108 DQ185029.1 Pakistani 17397051, 17185389
c.1490G>A potential missplicing R497K DQ185029.1 French 17397051
c.184_190del7 T61VfsX14 DQ185029.1 French 17397051
c.262-37_179del missplicing DQ185029.1 Turkish 17437276
c.417G>A skips exon 4 F88_E139del European 17377820
c.424C>T Q142X DQ185029.1 French 17397051
c.472C>T R158X DQ185029.1 French 17397051
c.515+12C>T potential missplicing DQ185029.1 Kuwaiti 17437276
c.958G>A V320I DQ185029.1 French 17397051