ClinVar

NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)

Gene:

KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34449612 (on Assembly GRCh38)
• Chr21: 35821910 (on Assembly GRCh37)

Preferred name:

NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)

Other names:

NM_000219.5(KCNE1):c.23C>T(p.Ala8Val); NM_001127668.3(KCNE1):c.23C>T(p.Ala8Val); NM_001127669.3(KCNE1):c.23C>T(p.Ala8Val); NM_001127670.3(KCNE1):c.23C>T(p.Ala8Val); NM_001270402.2(KCNE1):c.23C>T(p.Ala8Val); NM_001270403.2(KCNE1):c.23C>T(p.Ala8Val); NM_001270404.2(KCNE1):c.23C>T(p.Ala8Val); NM_001270405.2(KCNE1):c.23C>T(p.Ala8Val)

HGVS:

• NC_000021.9:g.34449612G>A
• NG_009091.1:g.66704C>T
• NM_000219.6:c.23C>TMANE SELECT
• NM_001127668.4:c.23C>T
• NM_001127669.4:c.23C>T
• NM_001127670.4:c.23C>T
• NM_001270402.3:c.23C>T
• NM_001270403.2:c.23C>T
• NM_001270404.3:c.23C>T
• NM_001270405.3:c.23C>T
• NP_000210.2:p.Ala8Val
• NP_001121140.1:p.Ala8Val
• NP_001121141.1:p.Ala8Val
• NP_001121142.1:p.Ala8Val
• NP_001257331.1:p.Ala8Val
• NP_001257332.1:p.Ala8Val
• NP_001257333.1:p.Ala8Val
• NP_001257334.1:p.Ala8Val
• LRG_290t1:c.23C>T
• LRG_290:g.66704C>T
• NC_000021.8:g.35821910G>A
• NM_000219.3:c.23C>T
• NM_000219.4:c.23C>T
• NM_000219.5:c.23C>T
• NM_001127670.4:c.23C>T
• P15382:p.Ala8Val

This HGVS expression did not pass validation

Protein change:

A8V

Links:

UniProtKB: P15382#VAR_074908; dbSNP: rs199473348

NCBI 1000 Genomes Browser:

rs199473348

Molecular consequence:

• NM_000219.6:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127668.4:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127669.4:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127670.4:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270402.3:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270403.2:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270404.3:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270405.3:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Effect on ion channel function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0001] - Comment(s)

• This variant was studied in a multiplexed assay of variant effect (PMID 38816749). This variant had a mean functional score of 0.778 (0.703-0.852 confidence interval). This score is on a scale where the median nonsense variant had a score of 0 and the median synonymous variant had a score of 1. This score was determined to be "normal function". Calibration with control variants resulted in a recommended application of PS3 or BS3 at a maximum of moderate level for this assay.