ClinVar

NM_000218.3(KCNQ1):c.135G>A (p.Pro45=)

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: 2445233 (on Assembly GRCh38)
• Chr11: 2466463 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.135G>A (p.Pro45=)

HGVS:

• NC_000011.10:g.2445233G>A
• NG_008935.1:g.5243G>A
• NM_000218.3:c.135G>AMANE SELECT
• NM_001406836.1:c.135G>A
• NM_001406837.1:c.-228G>A
• NM_001406838.1:c.135G>A
• NP_000209.2:p.Pro45=
• NP_000209.2:p.Pro45=
• NP_001393765.1:p.Pro45=
• NP_001393767.1:p.Pro45=
• LRG_287t1:c.135G>A
• LRG_287:g.5243G>A
• LRG_287p1:p.Pro45=
• NC_000011.9:g.2466463G>A
• NM_000218.2:c.135G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001406837.1:c.-228G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000218.3:c.135G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406836.1:c.135G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406838.1:c.135G>A - synonymous variant - [Sequence Ontology: SO:0001819]