ClinVar

NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)

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: 150958449 (on Assembly GRCh38)
• Chr7: 150655537 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)

Other names:

p.R176W:CGG>TGG

HGVS:

• NC_000007.14:g.150958449G>A
• NG_008916.1:g.24478C>T
• NM_000238.4:c.526C>TMANE SELECT
• NM_001406753.1:c.238C>T
• NM_001406755.1:c.349C>T
• NM_001406756.1:c.238C>T
• NM_001406757.1:c.226C>T
• NM_172056.3:c.526C>T
• NP_000229.1:p.Arg176Trp
• NP_000229.1:p.Arg176Trp
• NP_001393682.1:p.Arg80Trp
• NP_001393684.1:p.Arg117Trp
• NP_001393685.1:p.Arg80Trp
• NP_001393686.1:p.Arg76Trp
• NP_742053.1:p.Arg176Trp
• NP_742053.1:p.Arg176Trp
• LRG_288t1:c.526C>T
• LRG_288t2:c.526C>T
• LRG_288:g.24478C>T
• LRG_288p1:p.Arg176Trp
• LRG_288p2:p.Arg176Trp
• NC_000007.13:g.150655537G>A
• NM_000238.2:c.526C>T
• NM_000238.3:c.526C>T
• NM_172056.2:c.526C>T
• NR_176254.1:n.934C>T
• Q12809:p.Arg176Trp

This HGVS expression did not pass validation

Protein change:

R117W

Links:

UniProtKB: Q12809#VAR_008915; dbSNP: rs36210422

NCBI 1000 Genomes Browser:

rs36210422

Molecular consequence:

• NM_000238.4:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.349C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.226C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]