Variant #0000237905 (NC_000009.11:g.130428566_130428568delinsCC, NM_003165.3:c.785_787delinsCC (STXBP1))

Individual ID 00144673
Chromosome 9
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.130428566_130428568delinsCC
DNA change (hg38) g.127666287_127666289delinsCC
Published as -
ISCN -
DB-ID STXBP1_000060
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2017-12-21 13:09:03 +01:00 (CET)
Date last edited 2017-12-22 10:50:36 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STXBP1 NM_003165.3 +/. 9 c.785_787delinsCC r.(?) p.(Asp262Alafs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145530 DNA SEQ - - - 2 IMGAG


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