Variant #0000040351 (NC_000012.11:g.5021656C>T, NM_000217.2:c.1112C>T (KCNA1))

Individual ID 00019890
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5021656C>T
DNA change (hg38) g.4912490C>T
Published as -
ISCN -
DB-ID KCNA1_000001
Variant remarks -
Reference PubMed: Gilissen 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-09-15 10:49:12 +02:00 (CEST)
Date last edited 2014-11-08 09:49:37 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNA1 NM_000217.2 +/. - c.1112C>T r.(?) p.(Thr371Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019883 DNA SEQ - - CATSPERB, KCNA1, SPACA7 3 Marianne Vos (LOVD-team)


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