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NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) AND Niemann-Pick disease, type A

Significance: Pathogenic
ClinVar: RCV000003114

Variant: NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)

Type: Variant
Allele: NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) 18019
Gene:
Type: single nucleotide variant
Location: Chr11: 6415434 - assembly GRCh37
Chr11: 6394204 - assembly GRCh38
References: dbSNP: 120074117
OMIM: 607608.0001
Genetic Testing Registry (GTR): GTR000501121
Genetic Testing Registry (GTR): GTR000334175
Genetic Testing Registry (GTR): GTR000321633

Condition

Disease: Niemann-Pick disease, type A