ClinVar

NM_000238.4(KCNH2):c.1097G>A (p.Arg366Gln)

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: 150957322 (on Assembly GRCh38)
• Chr7: 150654410 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.1097G>A (p.Arg366Gln)

HGVS:

• NC_000007.14:g.150957322C>T
• NG_008916.1:g.25605G>A
• NM_000238.4:c.1097G>AMANE SELECT
• NM_001406753.1:c.809G>A
• NM_001406755.1:c.920G>A
• NM_001406756.1:c.809G>A
• NM_001406757.1:c.797G>A
• NM_172056.3:c.1097G>A
• NP_000229.1:p.Arg366Gln
• NP_000229.1:p.Arg366Gln
• NP_001393682.1:p.Arg270Gln
• NP_001393684.1:p.Arg307Gln
• NP_001393685.1:p.Arg270Gln
• NP_001393686.1:p.Arg266Gln
• NP_742053.1:p.Arg366Gln
• NP_742053.1:p.Arg366Gln
• LRG_288t1:c.1097G>A
• LRG_288t2:c.1097G>A
• LRG_288:g.25605G>A
• LRG_288p1:p.Arg366Gln
• LRG_288p2:p.Arg366Gln
• NC_000007.13:g.150654410C>T
• NC_000007.13:g.150654410C>T
• NM_000238.2:c.1097G>A
• NM_000238.3:c.1097G>A
• NM_172056.2:c.1097G>A
• NR_176254.1:n.1505G>A

This HGVS expression did not pass validation

Protein change:

R266Q

Links:

dbSNP: rs1372751640

NCBI 1000 Genomes Browser:

rs1372751640

Molecular consequence:

• NM_000238.4:c.1097G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.920G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.797G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.1097G>A - missense variant - [Sequence Ontology: SO:0001583]