ClinVar

NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155235823 (on Assembly GRCh38)
• Chr1: 155205614 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)

Other names:

G377S

HGVS:

• NC_000001.11:g.155235823C>T
• NG_009783.1:g.13875G>A
• NG_042867.1:g.2285C>T
• NM_000157.3(GBA):c.1246G>A
• NM_000157.4:c.1246G>AMANE SELECT
• NM_001005741.3:c.1246G>A
• NM_001005742.3:c.1246G>A
• NM_001171811.2:c.985G>A
• NM_001171812.2:c.1099G>A
• NP_000148.2:p.Gly416Ser
• NP_001005741.1:p.Gly416Ser
• NP_001005742.1:p.Gly416Ser
• NP_001165282.1:p.Gly329Ser
• NP_001165283.1:p.Gly367Ser
• NC_000001.10:g.155205614C>T
• NM_000157.3(GBA):c.1246G>A
• NM_000157.3:c.1246G>A
• NM_001005741.2:c.1246G>A
• NM_001005741.3:c.1246G>A
• P04062:p.Gly416Ser

This HGVS expression did not pass validation

Protein change:

G329S; GLY377SER

Links:

UniProtKB: P04062#VAR_003303; OMIM: 606463.0040; dbSNP: rs121908311

NCBI 1000 Genomes Browser:

rs121908311

Molecular consequence:

• NM_000157.4:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.1099G>A - missense variant - [Sequence Ontology: SO:0001583]