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NM_000235.4(LIPA):c.253C>T (p.Gln85Ter) AND Lysosomal acid lipase deficiency

Significance: Pathogenic
ClinVar: RCV000190602

Variant: NM_000235.4(LIPA):c.253C>T (p.Gln85Ter)

Type: Variant
Allele: NM_000235.4(LIPA):c.253C>T (p.Gln85Ter) 205164
Gene:
Type: single nucleotide variant
Location: Chr10: 89228375 - assembly GRCh38
Chr10: 90988132 - assembly GRCh37
References: dbSNP: 797045094

Condition

Disease: Lysosomal acid lipase deficiency