ClinVar

NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)

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: 34449388 (on Assembly GRCh38)
• Chr21: 35821686 (on Assembly GRCh37)

Preferred name:

NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)

HGVS:

• NC_000021.9:g.34449388C>T
• NG_009091.1:g.66928G>A
• NM_000219.6:c.247G>AMANE SELECT
• NM_001127668.4:c.247G>A
• NM_001127669.4:c.247G>A
• NM_001127670.4:c.247G>A
• NM_001270402.3:c.247G>A
• NM_001270403.2:c.247G>A
• NM_001270404.3:c.247G>A
• NM_001270405.3:c.247G>A
• NP_000210.2:p.Glu83Lys
• NP_001121140.1:p.Glu83Lys
• NP_001121141.1:p.Glu83Lys
• NP_001121142.1:p.Glu83Lys
• NP_001257331.1:p.Glu83Lys
• NP_001257332.1:p.Glu83Lys
• NP_001257333.1:p.Glu83Lys
• NP_001257334.1:p.Glu83Lys
• LRG_290t1:c.247G>A
• LRG_290:g.66928G>A
• NC_000021.8:g.35821686C>T
• NM_000219.3:c.247G>A
• NM_001127670.4:c.247G>A
• P15382:p.Glu83Lys

This HGVS expression did not pass validation

Protein change:

E83K

Links:

UniProtKB: P15382#VAR_074919; dbSNP: rs199473360

NCBI 1000 Genomes Browser:

rs199473360

Molecular consequence:

• NM_000219.6:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127668.4:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127669.4:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127670.4:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270402.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270403.2:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270404.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270405.3:c.247G>A - 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 0.841 (0.091-1.591 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 "possible loss of function". Calibration with control variants resulted in a recommended application of PS3 or BS3 at a maximum of moderate level for this assay.