ClinVar

NM_001289104.2(PRKCSH):c.862G>A (p.Asp288Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11447451 (on Assembly GRCh38)
• Chr19: 11558266 (on Assembly GRCh37)

Preferred name:

NM_001289104.2(PRKCSH):c.862G>A (p.Asp288Asn)

HGVS:

• NC_000019.10:g.11447451G>A
• NG_009300.1:g.16998G>A
• NM_001001329.3:c.862G>A
• NM_001289102.2:c.862G>A
• NM_001289103.2:c.862G>A
• NM_001289104.2:c.862G>AMANE SELECT
• NM_001379608.1:c.862G>A
• NM_001379609.1:c.862G>A
• NM_002743.3:c.862G>A
• NP_001001329.1:p.Asp288Asn
• NP_001276031.1:p.Asp288Asn
• NP_001276032.1:p.Asp288Asn
• NP_001276033.1:p.Asp288Asn
• NP_001366537.1:p.Asp288Asn
• NP_001366538.1:p.Asp288Asn
• NP_002734.2:p.Asp288Asn
• NC_000019.9:g.11558266G>A
• NC_000019.9:g.11558266G>A
• NM_002743.2:c.862G>A

This HGVS expression did not pass validation

Protein change:

D288N

Links:

dbSNP: rs144616910

NCBI 1000 Genomes Browser:

rs144616910

Molecular consequence:

• NM_001001329.3:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289102.2:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289103.2:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289104.2:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379608.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379609.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002743.3:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]