ClinVar

NM_000238.4(KCNH2):c.2778G>A (p.Pro926=)

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: 150947793 (on Assembly GRCh38)
• Chr7: 150644881 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.2778G>A (p.Pro926=)

HGVS:

• NC_000007.14:g.150947793C>T
• NG_008916.1:g.35134G>A
• NM_000238.4:c.2778G>AMANE SELECT
• NM_172057.3:c.1758G>A
• NP_000229.1:p.Pro926=
• NP_000229.1:p.Pro926=
• NP_742054.1:p.Pro586=
• LRG_288t1:c.2778G>A
• LRG_288:g.35134G>A
• LRG_288p1:p.Pro926=
• NC_000007.13:g.150644881C>T
• NM_000238.3:c.2778G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs898987242

NCBI 1000 Genomes Browser:

rs898987242

Molecular consequence:

• NM_000238.4:c.2778G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172057.3:c.1758G>A - synonymous variant - [Sequence Ontology: SO:0001819]