ClinVar

NM_000238.4(KCNH2):c.656A>T (p.Asp219Val)

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: 150958319 (on Assembly GRCh38)
• Chr7: 150655407 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.656A>T (p.Asp219Val)

HGVS:

• NC_000007.14:g.150958319T>A
• NG_008916.1:g.24608A>T
• NM_000238.4:c.656A>TMANE SELECT
• NM_001406753.1:c.368A>T
• NM_001406755.1:c.479A>T
• NM_001406756.1:c.368A>T
• NM_001406757.1:c.356A>T
• NM_172056.3:c.656A>T
• NP_000229.1:p.Asp219Val
• NP_000229.1:p.Asp219Val
• NP_001393682.1:p.Asp123Val
• NP_001393684.1:p.Asp160Val
• NP_001393685.1:p.Asp123Val
• NP_001393686.1:p.Asp119Val
• NP_742053.1:p.Asp219Val
• NP_742053.1:p.Asp219Val
• LRG_288t1:c.656A>T
• LRG_288t2:c.656A>T
• LRG_288:g.24608A>T
• LRG_288p1:p.Asp219Val
• LRG_288p2:p.Asp219Val
• NC_000007.13:g.150655407T>A
• NM_000238.3:c.656A>T
• NM_172056.2:c.656A>T
• NR_176254.1:n.1064A>T

This HGVS expression did not pass validation

Protein change:

D119V

Links:

dbSNP: rs587777907

NCBI 1000 Genomes Browser:

rs587777907

Molecular consequence:

• NM_000238.4:c.656A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.368A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.479A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.368A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.356A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.656A>T - missense variant - [Sequence Ontology: SO:0001583]