ClinVar

NM_000157.4(GBA1):c.1604G>A (p.Arg535His)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155235002 (on Assembly GRCh38)
• Chr1: 155204793 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.1604G>A (p.Arg535His)

Other names:

R496H

HGVS:

• NC_000001.11:g.155235002C>T
• NG_009783.1:g.14696G>A
• NG_042867.1:g.1464C>T
• NM_000157.3(GBA):c.1604G>A
• NM_000157.4:c.1604G>AMANE SELECT
• NM_001005741.3:c.1604G>A
• NM_001005742.3:c.1604G>A
• NM_001171811.2:c.1343G>A
• NM_001171812.2:c.1457G>A
• NP_000148.2:p.Arg535His
• NP_001005741.1:p.Arg535His
• NP_001005742.1:p.Arg535His
• NP_001165282.1:p.Arg448His
• NP_001165283.1:p.Arg486His
• NC_000001.10:g.155204793C>T
• NM_000157.2:c.1604G>A
• NM_000157.3(GBA):c.1604G>A
• NM_000157.3:c.1604G>A
• NM_000157.4:c.1604G>A
• NM_001005741.2:c.1604G>A
• NM_001005741.3:c.1604G>A
• NM_001005742.2:c.1604G>A
• P04062:p.Arg535His
• c.1604G>A (p.Arg535His)

This HGVS expression did not pass validation

Protein change:

R448H; ARG496HIS

Links:

UniProtKB: P04062#VAR_003328; OMIM: 606463.0022; dbSNP: rs75822236

NCBI 1000 Genomes Browser:

rs75822236

Molecular consequence:

• NM_000157.4:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.1457G>A - missense variant - [Sequence Ontology: SO:0001583]