ClinVar

NM_000238.4(KCNH2):c.343G>A (p.Val115Met)

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: 150959701 (on Assembly GRCh38)
• Chr7: 150656789 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.343G>A (p.Val115Met)

HGVS:

• NC_000007.14:g.150959701C>T
• NG_008916.1:g.23226G>A
• NM_000238.4:c.343G>AMANE SELECT
• NM_001406753.1:c.55G>A
• NM_001406755.1:c.166G>A
• NM_001406756.1:c.55G>A
• NM_001406757.1:c.43G>A
• NM_172056.3:c.343G>A
• NP_000229.1:p.Val115Met
• NP_000229.1:p.Val115Met
• NP_001393682.1:p.Val19Met
• NP_001393684.1:p.Val56Met
• NP_001393685.1:p.Val19Met
• NP_001393686.1:p.Val15Met
• NP_742053.1:p.Val115Met
• NP_742053.1:p.Val115Met
• LRG_288t1:c.343G>A
• LRG_288t2:c.343G>A
• LRG_288:g.23226G>A
• LRG_288p1:p.Val115Met
• LRG_288p2:p.Val115Met
• NC_000007.13:g.150656789C>T
• NM_000238.3:c.343G>A
• NM_172056.2:c.343G>A
• NR_176254.1:n.751G>A

This HGVS expression did not pass validation

Protein change:

V115M

Links:

dbSNP: rs150988911

NCBI 1000 Genomes Browser:

rs150988911

Molecular consequence:

• NM_000238.4:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.55G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.55G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]