Variant #0000698232 (NC_000023.10:g.152961800_152967144del, SLC6A8(NM_005629.3):c.*1131_*1379{0})

Individual ID 00314919
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.152961800_152967144del
DNA change (hg38) g.153696345_153701689del
Published as del ex8
ISCN -
DB-ID BCAP31_000041 See all 4 reported entries
Variant remarks SLC6A8 transcript level 0.46
Reference PubMed: Cacciagli 2013
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCAP31 NM_001139457.2 +/. 7i_8_ c.903+318_*445{0} r.? p.?
BCAP31 NM_001256447.1 +/. - c.702+318_*445{0} r.? p.?
SLC6A8 NM_005629.3 +/. - c.*1131_*1379{0} r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316093 DNA SEQ - - BCAP31 1 Johan den Dunnen