ClinVar

NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 150957352 (on Assembly GRCh38)
• Chr7: 150654440 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)

HGVS:

• NC_000007.14:g.150957352C>T
• NG_008916.1:g.25575G>A
• NM_000238.4:c.1067G>AMANE SELECT
• NM_001406753.1:c.779G>A
• NM_001406755.1:c.890G>A
• NM_001406756.1:c.779G>A
• NM_001406757.1:c.767G>A
• NM_172056.3:c.1067G>A
• NP_000229.1:p.Arg356His
• NP_000229.1:p.Arg356His
• NP_001393682.1:p.Arg260His
• NP_001393684.1:p.Arg297His
• NP_001393685.1:p.Arg260His
• NP_001393686.1:p.Arg256His
• NP_742053.1:p.Arg356His
• NP_742053.1:p.Arg356His
• LRG_288t1:c.1067G>A
• LRG_288t2:c.1067G>A
• LRG_288:g.25575G>A
• LRG_288p1:p.Arg356His
• LRG_288p2:p.Arg356His
• NC_000007.13:g.150654440C>T
• NM_000238.2:c.1067G>A
• NM_000238.3:c.1067G>A
• NM_172056.2:c.1067G>A
• NR_176254.1:n.1475G>A

This HGVS expression did not pass validation

Protein change:

R256H

Links:

dbSNP: rs730880118

NCBI 1000 Genomes Browser:

rs730880118

Molecular consequence:

• NM_000238.4:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.779G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.890G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.779G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.767G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1