ClinVar

NM_000235.4(LIPA):c.396C>G (p.Leu132=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 89228232 (on Assembly GRCh38)
• Chr10: 90987989 (on Assembly GRCh37)

Preferred name:

NM_000235.4(LIPA):c.396C>G (p.Leu132=)

HGVS:

• NC_000010.11:g.89228232G>C
• NG_008194.1:g.28672C>G
• NM_000235.4:c.396C>GMANE SELECT
• NM_001127605.3:c.396C>G
• NM_001288979.2:c.48C>G
• NP_000226.2:p.Leu132=
• NP_001121077.1:p.Leu132=
• NP_001275908.1:p.Leu16=
• NC_000010.10:g.90987989G>C
• NM_000235.2:c.396C>G
• NM_000235.3:c.396C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs201603238

NCBI 1000 Genomes Browser:

rs201603238

Molecular consequence:

• NM_000235.4:c.396C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127605.3:c.396C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288979.2:c.48C>G - synonymous variant - [Sequence Ontology: SO:0001819]