ClinVar

NM_000238.4(KCNH2):c.960G>A (p.Ser320=)

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: 150957459 (on Assembly GRCh38)
• Chr7: 150654547 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.960G>A (p.Ser320=)

HGVS:

• NC_000007.14:g.150957459C>T
• NG_008916.1:g.25468G>A
• NM_000238.4:c.960G>AMANE SELECT
• NM_001406753.1:c.672G>A
• NM_001406755.1:c.783G>A
• NM_001406756.1:c.672G>A
• NM_001406757.1:c.660G>A
• NM_172056.3:c.960G>A
• NP_000229.1:p.Ser320=
• NP_000229.1:p.Ser320=
• NP_001393682.1:p.Ser224=
• NP_001393684.1:p.Ser261=
• NP_001393685.1:p.Ser224=
• NP_001393686.1:p.Ser220=
• NP_742053.1:p.Ser320=
• NP_742053.1:p.Ser320=
• LRG_288t1:c.960G>A
• LRG_288t2:c.960G>A
• LRG_288:g.25468G>A
• LRG_288p1:p.Ser320=
• LRG_288p2:p.Ser320=
• NC_000007.13:g.150654547C>T
• NM_000238.2:c.960G>A
• NM_000238.3:c.960G>A
• NM_172056.2:c.960G>A
• NR_176254.1:n.1368G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs757055211

NCBI 1000 Genomes Browser:

rs757055211

Molecular consequence:

• NR_176254.1:n.1368G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000238.4:c.960G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406753.1:c.672G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406755.1:c.783G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406756.1:c.672G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406757.1:c.660G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172056.3:c.960G>A - synonymous variant - [Sequence Ontology: SO:0001819]