ClinVar

NM_000235.4(LIPA):c.76C>T (p.Leu26=)

Gene:

LIPA:lipase A, lysosomal acid type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 89247573 (on Assembly GRCh38)
• Chr10: 91007330 (on Assembly GRCh37)

Preferred name:

NM_000235.4(LIPA):c.76C>T (p.Leu26=)

HGVS:

• NC_000010.11:g.89247573G>A
• NG_008194.1:g.9331C>T
• NM_000235.4:c.76C>TMANE SELECT
• NM_001127605.3:c.76C>T
• NM_001288979.2:c.-120+4164C>T
• NP_000226.2:p.Leu26=
• NP_001121077.1:p.Leu26=
• NC_000010.10:g.91007330G>A
• NM_000235.2:c.76C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs377437637

NCBI 1000 Genomes Browser:

rs377437637

Molecular consequence:

• NM_001288979.2:c.-120+4164C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000235.4:c.76C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127605.3:c.76C>T - synonymous variant - [Sequence Ontology: SO:0001819]