{{Rsnum
|rsid = 17856039
|geno1 = (C;C)
|geno2 = (C;T)
|geno3 = (T;T)
|Status = Merged
|Merged = 4630153
|Gene = ALG6
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|Chromosome=1
|position=63415881
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ALG6
}}{{Venter SNP
|rsid=17856039
|allele=T
|frequency=
|uid=1103675111748
|type=heterozygous_SNP
|hugo=ALG6
|ensembl gene=ENSG00000088035
|ensembl transcript=ENST00000371108
|sift=TOLERATED
|disease=Defects in ALG6 are the cause of congenital disorder of glycosylation type Ic (CDG-Ic) (MIM:603147); also known as carbohydrate-deficient glycoprotein syndrome V (CDGS type V or CDGS V). Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins and are caused by mutations in genes encoding proteins involved in the stepwise assembly of dolichol-oligosaccharide used for protein N- glycosylation. CDG-Ic is an autosomal recessive disorder biochemically characterized by an accumulation of dolichyl pyrophosphate-linked Man(9)GlcNAc(2) in the endoplasmic reticulum. Patients have muscular hypotonia, show a delayed statomotor development and are mentally retarded.
}}

{{on chip | HumanOmni1Quad}}