Variant #0000469139 (NC_000009.11:g.130425602T>G, NM_003165.3:c.548T>G (STXBP1))

Individual ID 00227812
Chromosome 9
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.130425602T>G
DNA change (hg38) g.127663323T>G
Published as -
ISCN -
DB-ID STXBP1_000034
Variant remarks -
Reference PubMed: Milh 2011
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license No license selected
Created by Hirotomo Saitsu
Date created 2011-09-04 04:40:52 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STXBP1 NM_003165.3 +/+ 7 c.548T>G r.(?) p.(Leu183Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000228901 DNA SEQ - - STXBP1 1 LOVD


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