ClinVar

NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155235772 (on Assembly GRCh38)
• Chr1: 155205563 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)

Other names:

V394L

HGVS:

• NC_000001.11:g.155235772C>A
• NG_009783.1:g.13926G>T
• NG_042867.1:g.2234C>A
• NM_000157.4:c.1297G>TMANE SELECT
• NM_001005741.3:c.1297G>T
• NM_001005742.3:c.1297G>T
• NM_001171811.2:c.1036G>T
• NM_001171812.2:c.1150G>T
• NP_000148.2:p.Val433Leu
• NP_001005741.1:p.Val433Leu
• NP_001005742.1:p.Val433Leu
• NP_001165282.1:p.Val346Leu
• NP_001165283.1:p.Val384Leu
• NC_000001.10:g.155205563C>A
• NM_000157.3:c.1297G>T
• NM_001005741.2:c.1297G>T
• NM_001005741.3:c.1297G>T
• NM_001005742.2:c.1297G>T
• P04062:p.Val433Leu
• c.1297G>T (p.Val433Leu)

This HGVS expression did not pass validation

Protein change:

V346L; VAL394LEU

Links:

UniProtKB: P04062#VAR_003310; OMIM: 606463.0005; dbSNP: rs80356769

NCBI 1000 Genomes Browser:

rs80356769

Molecular consequence:

• NM_000157.4:c.1297G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.1297G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.1297G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.1036G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.1150G>T - missense variant - [Sequence Ontology: SO:0001583]