ClinVar

NM_002739.5(PRKCG):c.283G>A (p.Asp95Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 53884241 (on Assembly GRCh38)
• Chr19: 54387495 (on Assembly GRCh37)

Preferred name:

NM_002739.5(PRKCG):c.283G>A (p.Asp95Asn)

HGVS:

• NC_000019.10:g.53884241G>A
• NG_009114.1:g.7029G>A
• NM_001316329.2:c.283G>A
• NM_002739.3:c.283G>A
• NM_002739.5:c.283G>AMANE SELECT
• NP_001303258.1:p.Asp95Asn
• NP_002730.1:p.Asp95Asn
• LRG_669t1:c.283G>A
• LRG_669:g.7029G>A
• NC_000019.9:g.54387495G>A

This HGVS expression did not pass validation

Protein change:

D95N

Links:

dbSNP: rs1402720098

NCBI 1000 Genomes Browser:

rs1402720098

Molecular consequence:

• NM_001316329.2:c.283G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002739.5:c.283G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1