ClinVar

NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)

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: 150947864 (on Assembly GRCh38)
• Chr7: 150644952 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)

Other names:

p.G903R:GGG>AGG

HGVS:

• NC_000007.14:g.150947864C>T
• NG_008916.1:g.35063G>A
• NM_000238.4:c.2707G>AMANE SELECT
• NM_001406753.1:c.2419G>A
• NM_172057.3:c.1687G>A
• NP_000229.1:p.Gly903Arg
• NP_000229.1:p.Gly903Arg
• NP_001393682.1:p.Gly807Arg
• NP_742054.1:p.Gly563Arg
• NP_742054.1:p.Gly563Arg
• LRG_288t1:c.2707G>A
• LRG_288t3:c.1687G>A
• LRG_288:g.35063G>A
• LRG_288p1:p.Gly903Arg
• LRG_288p3:p.Gly563Arg
• NC_000007.13:g.150644952C>T
• NM_000238.2:c.2707G>A
• NM_000238.3:c.2707G>A
• NM_172056.1:c.*2035G>A
• NM_172057.2:c.1687G>A
• Q12809:p.Gly903Arg

This HGVS expression did not pass validation

Protein change:

G563R

Links:

UniProtKB: Q12809#VAR_074889; dbSNP: rs199473669

NCBI 1000 Genomes Browser:

rs199473669

Molecular consequence:

• NM_000238.4:c.2707G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.2419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172057.3:c.1687G>A - missense variant - [Sequence Ontology: SO:0001583]