ClinVar

NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155238174 (on Assembly GRCh38)
• Chr1: 155207965 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)

HGVS:

• NC_000001.11:g.155238174C>T
• NG_009783.1:g.11524G>A
• NG_042867.1:g.4636C>T
• NM_000157.4:c.721G>AMANE SELECT
• NM_001005741.3:c.721G>A
• NM_001005742.3:c.721G>A
• NM_001171811.2:c.460G>A
• NM_001171812.2:c.574G>A
• NP_000148.2:p.Gly241Arg
• NP_001005741.1:p.Gly241Arg
• NP_001005741.1:p.Gly241Arg
• NP_001005742.1:p.Gly241Arg
• NP_001165282.1:p.Gly154Arg
• NP_001165283.1:p.Gly192Arg
• NC_000001.10:g.155207965C>T
• NM_000157.3:c.721G>A
• NM_000157.4:c.721G>A
• NM_001005741.2(GBA):c.721G>A
• NM_001005741.2:c.721G>A
• NM_001005742.2:c.721G>A
• P04062:p.Gly241Arg

This HGVS expression did not pass validation

Protein change:

G154R

Links:

UniProtKB: P04062#VAR_003279; dbSNP: rs409652

NCBI 1000 Genomes Browser:

rs409652

Molecular consequence:

• NM_000157.4:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.574G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1