Variant #0000193905 (NC_000005.9:g.1414801del, SLC6A3(NM_001044.4):c.1156+5del)

Individual ID 00117480
Chromosome 5
Allele Both (homozygous)
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.1414801del
DNA change (hg38) g.1414686del
Published as -
ISCN -
DB-ID SLC6A3_000003
Variant remarks -
Reference PubMed: Kurian 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A3 NM_001044.4 +/+ 8i c.1156+5del r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117943 DNA SEQ - - SLC6A3 1 Johan den Dunnen