Variant #0000469137 (NC_000009.11:g.130423485G>A, NC_000009.11(NM_003165.3):c.429+1G>A (STXBP1))

Individual ID 00227790
Chromosome 9
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.130423485G>A
DNA change (hg38) g.127661206G>A
Published as -
ISCN -
DB-ID STXBP1_000010
Variant remarks not in 500 control chromosomes
Reference PubMed: Deprez 2010
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency 1/106
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2011-05-31 10:06:58 +02:00 (CEST)
Date last edited 2011-09-03 19:17:52 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STXBP1 NM_003165.3 +/? 6i c.429+1G>A r.spl? p.(fs*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000228879 DNA SEQ - - STXBP1 1 LOVD


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