Variant #0000413087 (NC_000023.10:g.152954248del, SLC6A8(NM_005629.3):c.219del)

Individual ID 00186030
Chromosome X
Allele Maternal (confirmed)
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.152954248del
DNA change (hg38) g.153688793del
Published as 219delC
ISCN -
DB-ID SLC6A8_003008 See all 2 reported entries
Variant remarks -
Reference PubMed: Dezortova 2008
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 +/+ 1 c.219del r.(?) p.(Asn74Thrfs*23)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186997 DNA SEQ - - SLC6A8 1 Gajja Salomons