ClinVar

NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155237453 (on Assembly GRCh38)
• Chr1: 155207244 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)

Other names:

R257E

HGVS:

• NC_000001.11:g.155237453C>T
• NG_009783.1:g.12245G>A
• NG_042867.1:g.3915C>T
• NM_000157.4:c.887G>AMANE SELECT
• NM_001005741.3:c.887G>A
• NM_001005742.3:c.887G>A
• NM_001171811.2:c.626G>A
• NM_001171812.2:c.740G>A
• NP_000148.2:p.Arg296Gln
• NP_001005741.1:p.Arg296Gln
• NP_001005741.1:p.Arg296Gln
• NP_001005742.1:p.Arg296Gln
• NP_001165282.1:p.Arg209Gln
• NP_001165283.1:p.Arg247Gln
• NC_000001.10:g.155207244C>T
• NM_000157.2:c.887G>A
• NM_000157.3:c.887G>A
• NM_000157.4:c.887G>A
• NM_001005741.2(GBA):c.887G>A
• NM_001005741.2:c.887G>A
• NM_001005742.2:c.887G>A
• P04062:p.Arg296Gln

This HGVS expression did not pass validation

Protein change:

R209Q; ARG257GLU

Links:

UniProtKB: P04062#VAR_003284; OMIM: 606463.0041; dbSNP: rs78973108

NCBI 1000 Genomes Browser:

rs78973108

Molecular consequence:

• NM_000157.4:c.887G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.887G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.887G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.740G>A - missense variant - [Sequence Ontology: SO:0001583]