Variant #0000698237 (NC_000023.10:g.152958460_152977354del, SLC6A8(NM_005629.3):c.778-36_*1379{0})

Individual ID 00314924
Chromosome X
Allele Maternal (inferred)
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.152958460_152977354del
DNA change (hg38) g.153693005_153711899del
Published as -
ISCN -
DB-ID BCAP31_000042
Variant remarks -
Reference PubMed: Osaka 2012
ClinVar ID -
dbSNP ID -
Origin De novo
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCAP31 NM_001139457.2 +/. 4i_8_ c.542+3643_*445{0} r.? p.?
BCAP31 NM_001256447.1 +/. - c.341+3643_*445{0} r.? p.?
SLC6A8 NM_005629.3 +/. 4i_13_ c.778-36_*1379{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316098 DNA PCR;PCRlr;RT-PCR;SEQ - - BCAP31, SLC6A8 1 Johan den Dunnen