ClinVar

NM_000235.4(LIPA):c.6A>T (p.Lys2Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 89247643 (on Assembly GRCh38)
• Chr10: 91007400 (on Assembly GRCh37)

Preferred name:

NM_000235.4(LIPA):c.6A>T (p.Lys2Asn)

HGVS:

• NC_000010.11:g.89247643T>A
• NG_008194.1:g.9261A>T
• NM_000235.4:c.6A>TMANE SELECT
• NM_001127605.3:c.6A>T
• NM_001288979.2:c.-120+4094A>T
• NP_000226.2:p.Lys2Asn
• NP_001121077.1:p.Lys2Asn
• NC_000010.10:g.91007400T>A
• NM_000235.2:c.6A>T

This HGVS expression did not pass validation

Protein change:

K2N

Links:

dbSNP: rs138408240

NCBI 1000 Genomes Browser:

rs138408240

Molecular consequence:

• NM_001288979.2:c.-120+4094A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000235.4:c.6A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127605.3:c.6A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1