ClinVar

NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp)

Gene:

PRKCSH:PRKCSH beta subunit of glucosidase II [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11447152 (on Assembly GRCh38)
• Chr19: 11557967 (on Assembly GRCh37)

Preferred name:

NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp)

HGVS:

• NC_000019.10:g.11447152C>T
• NG_009300.1:g.16699C>T
• NM_001001329.3:c.841C>T
• NM_001289102.2:c.841C>T
• NM_001289103.2:c.841C>T
• NM_001289104.2:c.841C>TMANE SELECT
• NM_001379608.1:c.841C>T
• NM_001379609.1:c.841C>T
• NM_002743.3:c.841C>T
• NP_001001329.1:p.Arg281Trp
• NP_001276031.1:p.Arg281Trp
• NP_001276032.1:p.Arg281Trp
• NP_001276033.1:p.Arg281Trp
• NP_001366537.1:p.Arg281Trp
• NP_001366538.1:p.Arg281Trp
• NP_002734.2:p.Arg281Trp
• NC_000019.9:g.11557967C>T

This HGVS expression did not pass validation

Protein change:

R281W

Links:

dbSNP: rs746231889

NCBI 1000 Genomes Browser:

rs746231889

Molecular consequence:

• NM_001001329.3:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289102.2:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289103.2:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289104.2:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379608.1:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379609.1:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002743.3:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]