ClinVar

NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln)

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: 150947385 (on Assembly GRCh38)
• Chr7: 150644473 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln)

HGVS:

• NC_000007.14:g.150947385C>T
• NG_008916.1:g.35542G>A
• NM_000238.4:c.3095G>AMANE SELECT
• NM_172057.3:c.2075G>A
• NP_000229.1:p.Arg1032Gln
• NP_000229.1:p.Arg1032Gln
• NP_742054.1:p.Arg692Gln
• LRG_288t1:c.3095G>A
• LRG_288:g.35542G>A
• LRG_288p1:p.Arg1032Gln
• NC_000007.13:g.150644473C>T
• NM_000238.3:c.3095G>A

This HGVS expression did not pass validation

Protein change:

R1032Q

Links:

dbSNP: rs199473020

NCBI 1000 Genomes Browser:

rs199473020

Molecular consequence:

• NM_000238.4:c.3095G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172057.3:c.2075G>A - missense variant - [Sequence Ontology: SO:0001583]