ClinVar

NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155236367 (on Assembly GRCh38)
• Chr1: 155206158 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)

HGVS:

• NC_000001.11:g.155236367G>A
• NG_009783.1:g.13331C>T
• NG_042867.1:g.2829G>A
• NM_000157.4:c.1102C>TMANE SELECT
• NM_001005741.2(GBA):c.1102C>T
• NM_001005741.3:c.1102C>T
• NM_001005742.3:c.1102C>T
• NM_001171811.2:c.841C>T
• NM_001171812.2:c.955C>T
• NP_000148.2:p.Arg368Cys
• NP_001005741.1:p.Arg368Cys
• NP_001005742.1:p.Arg368Cys
• NP_001165282.1:p.Arg281Cys
• NP_001165283.1:p.Arg319Cys
• NC_000001.10:g.155206158G>A
• NM_001005741.2(GBA):c.1102C>T
• NM_001005741.2:c.1102C>T
• p.Arg368Cys

This HGVS expression did not pass validation

Protein change:

R281C

Links:

dbSNP: rs374306700

NCBI 1000 Genomes Browser:

rs374306700

Molecular consequence:

• NM_000157.4:c.1102C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.1102C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.1102C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]