ClinVar

NM_174895.3(PCP2):c.280G>A (p.Val94Met)

Genes:

PCP2:Purkinje cell protein 2 [Gene - OMIM - HGNC]
STXBP2:syntaxin binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 7632404 (on Assembly GRCh38)
• Chr19: 7697290 (on Assembly GRCh37)

Preferred name:

NM_174895.3(PCP2):c.280G>A (p.Val94Met)

HGVS:

• NC_000019.10:g.7632404C>T
• NG_016709.1:g.300C>T
• NG_034117.1:g.7620C>T
• NM_001271830.2:c.232G>A
• NM_001414484.1:c.-60+1558C>T
• NM_174895.3:c.280G>AMANE SELECT
• NP_001258759.1:p.Val78Met
• NP_777555.1:p.Val94Met
• LRG_165:g.300C>T
• NC_000019.9:g.7697290C>T
• NM_174895.1:c.280G>A

This HGVS expression did not pass validation

Protein change:

V78M

Molecular consequence:

• NM_001414484.1:c.-60+1558C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271830.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_174895.3:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]