ClinVar

NM_000157.4(GBA1):c.1060G>C (p.Asp354His)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155236409 (on Assembly GRCh38)
• Chr1: 155206200 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.1060G>C (p.Asp354His)

HGVS:

• NC_000001.11:g.155236409C>G
• NG_009783.1:g.13289G>C
• NG_042867.1:g.2871C>G
• NM_000157.4:c.1060G>CMANE SELECT
• NM_001005741.2(GBA):c.1060G>C
• NM_001005741.3:c.1060G>C
• NM_001005742.3:c.1060G>C
• NM_001171811.2:c.799G>C
• NM_001171812.2:c.913G>C
• NP_000148.2:p.Asp354His
• NP_001005741.1:p.Asp354His
• NP_001005742.1:p.Asp354His
• NP_001165282.1:p.Asp267His
• NP_001165283.1:p.Asp305His
• NC_000001.10:g.155206200C>G
• NM_001005741.2(GBA):c.1060G>C
• NM_001005741.2:c.1060G>C
• P04062:p.Asp354His

This HGVS expression did not pass validation

Protein change:

D267H

Links:

UniProtKB: P04062#VAR_003292; dbSNP: rs398123526

NCBI 1000 Genomes Browser:

rs398123526

Molecular consequence:

• NM_000157.4:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.799G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.913G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

5