ClinVar

NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 53889743 (on Assembly GRCh38)
• Chr19: 54392997 (on Assembly GRCh37)

Preferred name:

NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)

HGVS:

• NC_000019.10:g.53889743T>C
• NG_009114.1:g.12531T>C
• NM_001316329.2:c.391T>C
• NM_002739.5:c.391T>CMANE SELECT
• NP_001303258.1:p.Cys131Arg
• NP_002730.1:p.Cys131Arg
• LRG_669:g.12531T>C
• NC_000019.9:g.54392997T>C

This HGVS expression did not pass validation

Nucleotide change:

c.391t>c

Protein change:

C131R

Links:

dbSNP: rs386134166

NCBI 1000 Genomes Browser:

rs386134166

Molecular consequence:

• NM_001316329.2:c.391T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002739.5:c.391T>C - missense variant - [Sequence Ontology: SO:0001583]