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NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser) AND Lathosterolosis

Significance: Pathogenic
ClinVar: RCV000007781

Variant: NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser)

Type: Variant
Allele: NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser) 22395
Gene:
Type: single nucleotide variant
Location: Chr11: 121174221 - assembly GRCh37
Chr11: 121303512 - assembly GRCh38
References: dbSNP: 104894297
OMIM: 602286.0003
UniProtKB: O75845#VAR_020829

Condition

Disease: Lathosterolosis

Citation

    In a patient with lathosterolosis (607330), Krakowiak et al. (2003) identified a homozygous 137A-C transversion in the SC5DL gene, resulting in a tyr46-to-ser (Y46S) substitution. The patient was initially described as having atypical Smith-Lemli-Opitz syndrome (270400) with mucolipidosis, but biochemical and molecular analyses confirmed the diagnosis of lathosterolosis.
PMID:12812989