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NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) AND Congenital disorder of glycosylation type 1M

Significance: Pathogenic
ClinVar: RCV000001190

Variant: NM_014908.3(DOLK):c.295T>A (p.Cys99Ser)

Type: Variant
Allele: NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) 16170
Gene:
Type: single nucleotide variant
Location: Chr9: 131709288 - assembly GRCh37
Chr9: 128947009 - assembly GRCh38
References: dbSNP: 137853109
OMIM: 610746.0001
UniProtKB: Q9UPQ8#VAR_032851

Condition

Disease: Congenital disorder of glycosylation type 1M

Citation

    In 2 affected first cousins in a consanguineous German family, Kranz et al. (2007) demonstrated that congenital disorder of glycosylation type Im (610768) was caused by homozygosity for a 295T-A transversion in the DOLK gene, resulting in a cys99-to-ser (C99S) substitution.
PMID:17273964