Variant #0000412846 (NC_000023.10:g.152958879C>G, SLC6A8(NM_005629.3):c.1017-38C>G)

Individual ID 00185890
Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.152958879C>G
DNA change (hg38) g.153693424C>G
Published as -
ISCN -
DB-ID SLC6A8_003057
Variant remarks Mild effect (<10% reduced change) predicted by 1 out of 5 splice predictors, 6/1900 MR patients
Reference PubMed: Clark 2006, PubMed: Betsalel 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/280 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00294 View details
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 -?/-? 6i c.1017-38C>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186857 DNA SEQ - - SLC6A8 1 Gajja Salomons