ClinVar

NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg)

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: 150958152 (on Assembly GRCh38)
• Chr7: 150655240 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg)

HGVS:

• NC_000007.14:g.150958152T>G
• NG_008916.1:g.24775A>C
• NM_000238.2:c.823A>C
• NM_000238.4:c.823A>CMANE SELECT
• NM_001406753.1:c.535A>C
• NM_001406755.1:c.646A>C
• NM_001406756.1:c.535A>C
• NM_001406757.1:c.523A>C
• NM_172056.3:c.823A>C
• NP_000229.1:p.Ser275Arg
• NP_000229.1:p.Ser275Arg
• NP_001393682.1:p.Ser179Arg
• NP_001393684.1:p.Ser216Arg
• NP_001393685.1:p.Ser179Arg
• NP_001393686.1:p.Ser175Arg
• NP_742053.1:p.Ser275Arg
• NP_742053.1:p.Ser275Arg
• LRG_288t1:c.823A>C
• LRG_288t2:c.823A>C
• LRG_288:g.24775A>C
• LRG_288p1:p.Ser275Arg
• LRG_288p2:p.Ser275Arg
• NC_000007.13:g.150655240T>G
• NM_000238.3:c.823A>C
• NM_172056.2:c.823A>C
• NR_176254.1:n.1231A>C

This HGVS expression did not pass validation

Protein change:

S175R

Links:

dbSNP: rs1268162009

NCBI 1000 Genomes Browser:

rs1268162009

Molecular consequence:

• NM_000238.4:c.823A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.535A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.646A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.535A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.523A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.823A>C - missense variant - [Sequence Ontology: SO:0001583]