ClinVar

NM_000157.4(GBA1):c.546G>A (p.Gln182=)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155238559 (on Assembly GRCh38)
• Chr1: 155208350 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.546G>A (p.Gln182=)

HGVS:

• NC_000001.11:g.155238559C>T
• NG_009783.1:g.11139G>A
• NG_042867.1:g.5021C>T
• NM_000157.4:c.546G>AMANE SELECT
• NM_001005741.3:c.546G>A
• NM_001005742.3:c.546G>A
• NM_001171811.2:c.285G>A
• NM_001171812.2:c.399G>A
• NP_000148.2:p.Gln182=
• NP_001005741.1:p.Gln182=
• NP_001005742.1:p.Gln182=
• NP_001165282.1:p.Gln95=
• NP_001165283.1:p.Gln133=
• NC_000001.10:g.155208350C>T
• NM_001005741.2:c.546G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs545391048

NCBI 1000 Genomes Browser:

rs545391048

Molecular consequence:

• NM_000157.4:c.546G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005741.3:c.546G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005742.3:c.546G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171811.2:c.285G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171812.2:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]