ClinVar

NM_000235.4(LIPA):c.615C>G (p.Ser205=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 89225152 (on Assembly GRCh38)
• Chr10: 90984909 (on Assembly GRCh37)

Preferred name:

NM_000235.4(LIPA):c.615C>G (p.Ser205=)

HGVS:

• NC_000010.11:g.89225152G>C
• NG_008194.1:g.31752C>G
• NM_000235.4:c.615C>GMANE SELECT
• NM_001127605.3:c.615C>G
• NM_001288979.2:c.267C>G
• NP_000226.2:p.Ser205=
• NP_001121077.1:p.Ser205=
• NP_001275908.1:p.Ser89=
• NC_000010.10:g.90984909G>C
• NM_000235.2:c.615C>G
• NM_000235.3:c.615C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs143930279

NCBI 1000 Genomes Browser:

rs143930279

Molecular consequence:

• NM_000235.4:c.615C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127605.3:c.615C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288979.2:c.267C>G - synonymous variant - [Sequence Ontology: SO:0001819]