ClinVar

NM_000238.4(KCNH2):c.2680C>T (p.Arg894Cys)

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: 150948456 (on Assembly GRCh38)
• Chr7: 150645544 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.2680C>T (p.Arg894Cys)

Other names:

p.R894C:CGC>TGC

HGVS:

• NC_000007.14:g.150948456G>A
• NG_008916.1:g.34471C>T
• NM_000238.4:c.2680C>TMANE SELECT
• NM_001406753.1:c.2392C>T
• NM_172057.3:c.1660C>T
• NP_000229.1:p.Arg894Cys
• NP_000229.1:p.Arg894Cys
• NP_001393682.1:p.Arg798Cys
• NP_742054.1:p.Arg554Cys
• NP_742054.1:p.Arg554Cys
• LRG_288t1:c.2680C>T
• LRG_288t3:c.1660C>T
• LRG_288:g.34471C>T
• LRG_288p1:p.Arg894Cys
• LRG_288p3:p.Arg554Cys
• NC_000007.13:g.150645544G>A
• NM_000238.2:c.2680C>T
• NM_000238.3:c.2680C>T
• NM_172056.1:c.*1443C>T
• NM_172057.2:c.1660C>T
• NR_176254.1:n.3088C>T
• NR_176255.1:n.1961C>T
• Q12809:p.Arg894Cys

This HGVS expression did not pass validation

Protein change:

R554C

Links:

UniProtKB: Q12809#VAR_074887; dbSNP: rs199473433

NCBI 1000 Genomes Browser:

rs199473433

Molecular consequence:

• NM_000238.4:c.2680C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.2392C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172057.3:c.1660C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_176254.1:n.3088C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176255.1:n.1961C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]