ClinVar

NM_002739.5(PRKCG):c.381G>T (p.Gln127His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 53889733 (on Assembly GRCh38)
• Chr19: 54392987 (on Assembly GRCh37)

Preferred name:

NM_002739.5(PRKCG):c.381G>T (p.Gln127His)

HGVS:

• NC_000019.10:g.53889733G>T
• NG_009114.1:g.12521G>T
• NM_001316329.2:c.381G>T
• NM_002739.5:c.381G>TMANE SELECT
• NP_001303258.1:p.Gln127His
• NP_002730.1:p.Gln127His
• LRG_669:g.12521G>T
• NC_000019.9:g.54392987G>T

This HGVS expression did not pass validation

Protein change:

Q127H

Links:

dbSNP: rs973767996

NCBI 1000 Genomes Browser:

rs973767996

Molecular consequence:

• NM_001316329.2:c.381G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002739.5:c.381G>T - missense variant - [Sequence Ontology: SO:0001583]