ClinVar

NM_004977.3(KCNC3):c.2245G>A (p.Ala749Thr)

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: 50320275 (on Assembly GRCh38)
• Chr19: 50823532 (on Assembly GRCh37)

Preferred name:

NM_004977.3(KCNC3):c.2245G>A (p.Ala749Thr)

HGVS:

• NC_000019.10:g.50320275C>T
• NG_008134.2:g.14103G>A
• NM_001372305.1:c.2017G>A
• NM_004977.3:c.2245G>AMANE SELECT
• NP_001359234.1:p.Ala673Thr
• NP_004968.2:p.Ala749Thr
• LRG_668t1:c.2245G>A
• LRG_668:g.14103G>A
• LRG_668p1:p.Ala749Thr
• NC_000019.9:g.50823532C>T

This HGVS expression did not pass validation

Protein change:

A673T

Links:

dbSNP: rs1365532889

NCBI 1000 Genomes Browser:

rs1365532889

Molecular consequence:

• NM_001372305.1:c.2017G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004977.3:c.2245G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1