ClinVar

NM_002739.5(PRKCG):c.68G>A (p.Gly23Glu)

Gene:

PRKCG:protein kinase C gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 53882562 (on Assembly GRCh38)
• Chr19: 54385816 (on Assembly GRCh37)

Preferred name:

NM_002739.5(PRKCG):c.68G>A (p.Gly23Glu)

HGVS:

• NC_000019.10:g.53882562G>A
• NG_009114.1:g.5350G>A
• NM_001316329.2:c.68G>A
• NM_002739.5:c.68G>AMANE SELECT
• NP_001303258.1:p.Gly23Glu
• NP_002730.1:p.Gly23Glu
• LRG_669t1:c.68G>A
• LRG_669:g.5350G>A
• NC_000019.9:g.54385816G>A
• NM_002739.3:c.68G>A

This HGVS expression did not pass validation

Protein change:

G23E

Links:

dbSNP: rs1599937005

NCBI 1000 Genomes Browser:

rs1599937005

Molecular consequence:

• NM_001316329.2:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002739.5:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]