ClinVar

NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)

Genes:

LOC106627981:GBA recombination region [Gene]
GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155235205 (on Assembly GRCh38)
• Chr1: 155204996 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)

HGVS:

• NC_000001.11:g.155235205C>G
• NG_009783.1:g.14493G>C
• NG_042867.1:g.1667C>G
• NM_000157.4:c.1495G>CMANE SELECT
• NM_001005741.3:c.1495G>C
• NM_001005742.3:c.1495G>C
• NM_001171811.2:c.1234G>C
• NM_001171812.2:c.1348G>C
• NP_000148.2:p.Val499Leu
• NP_001005741.1:p.Val499Leu
• NP_001005742.1:p.Val499Leu
• NP_001165282.1:p.Val412Leu
• NP_001165283.1:p.Val450Leu
• NC_000001.10:g.155204996C>G
• NM_001005741.2:c.1495G>C

This HGVS expression did not pass validation

Protein change:

V412L

Links:

dbSNP: rs369068553

NCBI 1000 Genomes Browser:

rs369068553

Molecular consequence:

• NM_000157.4:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.1234G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.1348G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1