ClinVar

NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 53900427 (on Assembly GRCh38)
• Chr19: 54403681 (on Assembly GRCh37)

Preferred name:

NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val)

HGVS:

• NC_000019.10:g.53900427C>T
• NG_009114.1:g.23215C>T
• NM_001316329.2:c.1382C>T
• NM_002739.5:c.1382C>TMANE SELECT
• NP_001303258.1:p.Ala461Val
• NP_002730.1:p.Ala461Val
• LRG_669t1:c.1382C>T
• LRG_669:g.23215C>T
• NC_000019.9:g.54403681C>T
• NM_002739.3:c.1382C>T

This HGVS expression did not pass validation

Protein change:

A461V

Links:

dbSNP: rs751774653

NCBI 1000 Genomes Browser:

rs751774653

Molecular consequence:

• NM_001316329.2:c.1382C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002739.5:c.1382C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1