ClinVar

NM_000238.4(KCNH2):c.491G>A (p.Arg164His)

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: 150958484 (on Assembly GRCh38)
• Chr7: 150655572 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.491G>A (p.Arg164His)

Other names:

NM_000238.3(KCNH2):c.491G>A(p.Arg164His); NM_172056.2(KCNH2):c.491G>A(p.Arg164His)

HGVS:

• NC_000007.14:g.150958484C>T
• NG_008916.1:g.24443G>A
• NM_000238.4:c.491G>AMANE SELECT
• NM_001406753.1:c.203G>A
• NM_001406755.1:c.314G>A
• NM_001406756.1:c.203G>A
• NM_001406757.1:c.191G>A
• NM_172056.3:c.491G>A
• NP_000229.1:p.Arg164His
• NP_000229.1:p.Arg164His
• NP_001393682.1:p.Arg68His
• NP_001393684.1:p.Arg105His
• NP_001393685.1:p.Arg68His
• NP_001393686.1:p.Arg64His
• NP_742053.1:p.Arg164His
• NP_742053.1:p.Arg164His
• LRG_288t1:c.491G>A
• LRG_288t2:c.491G>A
• LRG_288:g.24443G>A
• LRG_288p1:p.Arg164His
• LRG_288p2:p.Arg164His
• NC_000007.13:g.150655572C>T
• NM_000238.3:c.491G>A
• NM_172056.2:c.491G>A
• NR_176254.1:n.899G>A
• Q12809:p.Arg164His

This HGVS expression did not pass validation

Protein change:

R105H

Links:

UniProtKB: Q12809#VAR_074798; dbSNP: rs199472866

NCBI 1000 Genomes Browser:

rs199472866

Molecular consequence:

• NM_000238.4:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.203G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.314G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.203G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]