ClinVar

NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155239946 (on Assembly GRCh38)
• Chr1: 155209737 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)

HGVS:

• NC_000001.11:g.155239946G>A
• NG_009783.1:g.9752C>T
• NG_042867.1:g.6408G>A
• NM_000157.4:c.247C>TMANE SELECT
• NM_001005741.3:c.247C>T
• NM_001005742.3:c.247C>T
• NM_001171811.2:c.-15C>T
• NM_001171812.2:c.247C>T
• NP_000148.2:p.Arg83Cys
• NP_001005741.1:p.Arg83Cys
• NP_001005742.1:p.Arg83Cys
• NP_001165283.1:p.Arg83Cys
• NC_000001.10:g.155209737G>A
• NM_001005741.2:c.247C>T
• NM_001005741.3:c.247C>T

This HGVS expression did not pass validation

Protein change:

R83C

Links:

dbSNP: rs1141812

NCBI 1000 Genomes Browser:

rs1141812

Molecular consequence:

• NM_001171811.2:c.-15C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000157.4:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]