Variant #0000436811 (NC_000015.9:g.38382250_39350983del, SPRED1(NM_152594.2):c.-163137_*707118del)

Individual ID 00206133
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.38382250_39350983del
DNA change (hg38) -
Published as -
ISCN -
DB-ID SPRED1_000133
Variant remarks novel
Reference Popovici C, Marseille, France
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Cornel POPOVICI
Database submission license No license selected
Created by Cornel POPOVICI
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPRED1 NM_152594.2 +/+ TGD+flanking c.-163137_*707118del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207163 DNA arrayCGH blood - SPRED1 1 Cornel POPOVICI