ClinVar

NM_000217.3(KCNA1):c.893G>C (p.Arg298Thr)

Gene:

KCNA1:potassium voltage-gated channel subfamily A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.32

Genomic location:

• Chr12: 4912271 (on Assembly GRCh38)
• Chr12: 5021437 (on Assembly GRCh37)

Preferred name:

NM_000217.3(KCNA1):c.893G>C (p.Arg298Thr)

HGVS:

• NC_000012.12:g.4912271G>C
• NG_011815.1:g.7365G>C
• NM_000217.3:c.893G>CMANE SELECT
• NP_000208.2:p.Arg298Thr
• LRG_1297t1:c.893G>C
• LRG_1297:g.7365G>C
• LRG_1297p1:p.Arg298Thr
• NC_000012.11:g.5021437G>C

This HGVS expression did not pass validation

Protein change:

R298T

Links:

dbSNP: rs2137673691

NCBI 1000 Genomes Browser:

rs2137673691

Molecular consequence:

• NM_000217.3:c.893G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2