GENETIC ENCYCLOPEDIA
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NM_000235.4(LIPA):c.256C>T (p.His86Tyr) AND Lysosomal acid lipase deficiency

Significance: Uncertain significance
ClinVar: RCV000671520

Variant: NM_000235.4(LIPA):c.256C>T (p.His86Tyr)

Type: Variant
Allele: NM_000235.4(LIPA):c.256C>T (p.His86Tyr) 545319
Gene:
Type: single nucleotide variant
Location: Chr10: 89228372 - assembly GRCh38
Chr10: 90988129 - assembly GRCh37
References: dbSNP: 749180806

Condition

Disease: Lysosomal acid lipase deficiency