ClinVar

NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr)

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: 150958407 (on Assembly GRCh38)
• Chr7: 150655495 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr)

HGVS:

• NC_000007.14:g.150958407C>T
• NG_008916.1:g.24520G>A
• NM_000238.4:c.568G>AMANE SELECT
• NM_001406753.1:c.280G>A
• NM_001406755.1:c.391G>A
• NM_001406756.1:c.280G>A
• NM_001406757.1:c.268G>A
• NM_172056.3:c.568G>A
• NP_000229.1:p.Ala190Thr
• NP_000229.1:p.Ala190Thr
• NP_001393682.1:p.Ala94Thr
• NP_001393684.1:p.Ala131Thr
• NP_001393685.1:p.Ala94Thr
• NP_001393686.1:p.Ala90Thr
• NP_742053.1:p.Ala190Thr
• NP_742053.1:p.Ala190Thr
• LRG_288t1:c.568G>A
• LRG_288t2:c.568G>A
• LRG_288:g.24520G>A
• LRG_288p1:p.Ala190Thr
• LRG_288p2:p.Ala190Thr
• NC_000007.13:g.150655495C>T
• NM_000238.3:c.568G>A
• NM_172056.2:c.568G>A
• NR_176254.1:n.976G>A

This HGVS expression did not pass validation

Protein change:

A131T

Links:

dbSNP: rs150817714

NCBI 1000 Genomes Browser:

rs150817714

Molecular consequence:

• NM_000238.4:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]