ClinVar

NM_002739.5(PRKCG):c.1284C>T (p.Asp428=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 53900235 (on Assembly GRCh38)
• Chr19: 54403489 (on Assembly GRCh37)

Preferred name:

NM_002739.5(PRKCG):c.1284C>T (p.Asp428=)

HGVS:

• NC_000019.10:g.53900235C>T
• NG_009114.1:g.23023C>T
• NM_001316329.2:c.1284C>T
• NM_002739.5:c.1284C>TMANE SELECT
• NP_001303258.1:p.Asp428=
• NP_002730.1:p.Asp428=
• LRG_669:g.23023C>T
• NC_000019.9:g.54403489C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs147817906

NCBI 1000 Genomes Browser:

rs147817906

Molecular consequence:

• NM_001316329.2:c.1284C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002739.5:c.1284C>T - synonymous variant - [Sequence Ontology: SO:0001819]