Variant #0000412819 (NC_000023.10:g.152955828A>G, SLC6A8(NM_005629.3):c.263-2A>G)

Individual ID 00185823
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.152955828A>G
DNA change (hg38) g.153690373A>G
Published as r.263_328del
ISCN -
DB-ID SLC6A8_003015 See all 2 reported entries
Variant remarks cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site.
Reference PubMed: Schiaffino 2005, PubMed: Betsalel 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A8 NM_005629.3 +/+ 1i c.263-2A>G r.263_325del p.Gly88_Leu108del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186790 DNA;RNA SEQ - - SLC6A8 1 Gajja Salomons