ClinVar

NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser)

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: 150951580 (on Assembly GRCh38)
• Chr7: 150648668 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser)

HGVS:

• NC_000007.14:g.150951580G>A
• NG_008916.1:g.31347C>T
• NM_000238.4:c.1813C>TMANE SELECT
• NM_001204798.2:c.793C>T
• NM_001406753.1:c.1525C>T
• NM_001406755.1:c.1636C>T
• NM_001406756.1:c.1525C>T
• NM_001406757.1:c.1513C>T
• NM_172056.3:c.1813C>T
• NM_172057.3:c.793C>T
• NP_000229.1:p.Pro605Ser
• NP_000229.1:p.Pro605Ser
• NP_001191727.1:p.Pro265Ser
• NP_001393682.1:p.Pro509Ser
• NP_001393684.1:p.Pro546Ser
• NP_001393685.1:p.Pro509Ser
• NP_001393686.1:p.Pro505Ser
• NP_742053.1:p.Pro605Ser
• NP_742053.1:p.Pro605Ser
• NP_742054.1:p.Pro265Ser
• NP_742054.1:p.Pro265Ser
• LRG_288t1:c.1813C>T
• LRG_288t2:c.1813C>T
• LRG_288t3:c.793C>T
• LRG_288:g.31347C>T
• LRG_288p1:p.Pro605Ser
• LRG_288p2:p.Pro605Ser
• LRG_288p3:p.Pro265Ser
• NC_000007.13:g.150648668G>A
• NM_000238.3:c.1813C>T
• NM_172056.2:c.1813C>T
• NM_172057.2:c.793C>T
• NR_176254.1:n.2221C>T
• NR_176255.1:n.1094C>T
• Q12809:p.Pro605Ser

This HGVS expression did not pass validation

Protein change:

P265S

Links:

UniProtKB: Q12809#VAR_074845; dbSNP: rs199472939

NCBI 1000 Genomes Browser:

rs199472939

Molecular consequence:

• NM_000238.4:c.1813C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204798.2:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.1525C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.1636C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.1525C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.1513C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.1813C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172057.3:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2