ClinVar

NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155238270 (on Assembly GRCh38)
• Chr1: 155208061 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)

HGVS:

• NC_000001.11:g.155238270G>A
• NG_009783.1:g.11428C>T
• NG_042867.1:g.4732G>A
• NM_000157.4:c.625C>TMANE SELECT
• NM_001005741.2(GBA):c.625C>T
• NM_001005741.3:c.625C>T
• NM_001005742.3:c.625C>T
• NM_001171811.2:c.364C>T
• NM_001171812.2:c.478C>T
• NP_000148.2:p.Arg209Cys
• NP_001005741.1:p.Arg209Cys
• NP_001005742.1:p.Arg209Cys
• NP_001165282.1:p.Arg122Cys
• NP_001165283.1:p.Arg160Cys
• NC_000001.10:g.155208061G>A
• NM_001005741.2(GBA):c.625C>T
• NM_001005741.2:c.625C>T
• P04062:p.Arg209Cys

This HGVS expression did not pass validation

Protein change:

R122C

Links:

UniProtKB: P04062#VAR_032404; dbSNP: rs398123532

NCBI 1000 Genomes Browser:

rs398123532

Molecular consequence:

• NM_000157.4:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.478C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4