AMN


Amnionless homolog

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

Diseases associated to this gene:
MGA1

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
c.122C>T T41I AL134455 Norwegian 12590260
c.1253_1254insA L419fs NM_030943.1 Belgian 15024727
c.14delG termination at codon 16, Frameshift, truncated protein AL134455 Norwegian 12590260
c.208-1G>C Splice site mutation NM_030943.1 Turkish 15024727
c.208-2A>G complete skipping of exon 4 (88 bp) with a subsequent frameshift and premature termination in exon 6 AL134455 Turkish, Israeli-Jewish, Tunisian, Norwegian 17285242, 12590260, 15024727
c.43+1G>T Splice site mutation NM_030943 English-Israeli 18181028
c.683_730del48 Q228_L243del16 NM_030943.1 USA 15024727
c.701G>T C234F NM_030943 English-Israeli 18181028