ClinVar

NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg)

Gene:

KCNC3:potassium voltage-gated channel subfamily C member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50323962 (on Assembly GRCh38)
• Chr19: 50827219 (on Assembly GRCh37)

Preferred name:

NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg)

HGVS:

• NC_000019.10:g.50323962C>T
• NG_008134.2:g.10416G>A
• NM_001372305.1:c.763G>A
• NM_004977.3:c.991G>AMANE SELECT
• NP_001359234.1:p.Gly255Arg
• NP_004968.2:p.Gly331Arg
• NP_004968.2:p.Gly331Arg
• LRG_668t1:c.991G>A
• LRG_668:g.10416G>A
• LRG_668p1:p.Gly331Arg
• NC_000019.9:g.50827219C>T
• NM_004977.2:c.991G>A

This HGVS expression did not pass validation

Protein change:

G255R

Links:

dbSNP: rs1305901422

NCBI 1000 Genomes Browser:

rs1305901422

Molecular consequence:

• NM_001372305.1:c.763G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004977.3:c.991G>A - missense variant - [Sequence Ontology: SO:0001583]