ClinVar

NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)

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: 150950246 (on Assembly GRCh38)
• Chr7: 150647334 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)

Other names:

p.D774Y:GAC>TAC

HGVS:

• NC_000007.14:g.150950246C>A
• NG_008916.1:g.32681G>T
• NM_000238.4:c.2320G>TMANE SELECT
• NM_001204798.2:c.1300G>T
• NM_001406753.1:c.2032G>T
• NM_001406755.1:c.2143G>T
• NM_001406756.1:c.2032G>T
• NM_001406757.1:c.2020G>T
• NM_172056.3:c.2320G>T
• NM_172057.3:c.1300G>T
• NP_000229.1:p.Asp774Tyr
• NP_000229.1:p.Asp774Tyr
• NP_001191727.1:p.Asp434Tyr
• NP_001393682.1:p.Asp678Tyr
• NP_001393684.1:p.Asp715Tyr
• NP_001393685.1:p.Asp678Tyr
• NP_001393686.1:p.Asp674Tyr
• NP_742053.1:p.Asp774Tyr
• NP_742053.1:p.Asp774Tyr
• NP_742054.1:p.Asp434Tyr
• NP_742054.1:p.Asp434Tyr
• LRG_288t1:c.2320G>T
• LRG_288t2:c.2320G>T
• LRG_288t3:c.1300G>T
• LRG_288:g.32681G>T
• LRG_288p1:p.Asp774Tyr
• LRG_288p2:p.Asp774Tyr
• LRG_288p3:p.Asp434Tyr
• NC_000007.13:g.150647334C>A
• NM_000238.2:c.2320G>T
• NM_000238.3:c.2320G>T
• NM_172056.2:c.2320G>T
• NM_172057.2:c.1300G>T
• NR_176254.1:n.2728G>T
• NR_176255.1:n.1601G>T
• Q12809:p.Asp774Tyr

This HGVS expression did not pass validation

Protein change:

D434Y

Links:

UniProtKB: Q12809#VAR_068277; dbSNP: rs199472995

NCBI 1000 Genomes Browser:

rs199472995

Molecular consequence:

• NM_000238.4:c.2320G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204798.2:c.1300G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.2032G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.2143G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.2032G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.2020G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.2320G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172057.3:c.1300G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1