ClinVar

NM_000218.3(KCNQ1):c.975G>A (p.Gly325=)

Gene:

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2583488 (on Assembly GRCh38)
• Chr11: 2604718 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.975G>A (p.Gly325=)

HGVS:

• NC_000011.10:g.2583488G>A
• NG_008935.1:g.143498G>A
• NM_000218.3:c.975G>AMANE SELECT
• NM_001406836.1:c.975G>A
• NM_001406837.1:c.705G>A
• NM_001406838.1:c.531G>A
• NM_181798.2:c.594G>A
• NP_000209.2:p.Gly325=
• NP_000209.2:p.Gly325=
• NP_001393765.1:p.Gly325=
• NP_001393766.1:p.Gly235=
• NP_001393767.1:p.Gly177=
• NP_861463.1:p.Gly198=
• NP_861463.1:p.Gly198=
• LRG_287t1:c.975G>A
• LRG_287t2:c.594G>A
• LRG_287:g.143498G>A
• LRG_287p1:p.Gly325=
• LRG_287p2:p.Gly198=
• NC_000011.9:g.2604718G>A
• NM_000218.2:c.975G>A
• NM_181798.1:c.594G>A
• NR_040711.2:n.868G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2133750801

NCBI 1000 Genomes Browser:

rs2133750801

Molecular consequence:

• NM_000218.3:c.975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406836.1:c.975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406837.1:c.705G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406838.1:c.531G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181798.2:c.594G>A - synonymous variant - [Sequence Ontology: SO:0001819]