Variant #0000436815 (NC_000015.9:g.?, SPRED1(NM_152594.2):c.-5076117_*799493del)

Individual ID 00206137
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.?
DNA change (hg38) -
Published as c.-335-u5075783_*5585+d793907del
ISCN -
DB-ID SPRED1_000087
Variant remarks 3.24Mb deletion
Reference PubMed: Brems et al, 2012
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Ludwine Messiaen
Database submission license No license selected
Created by Ludwine Messiaen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPRED1 NM_152594.2 +/+ TGD+flanking c.-5076117_*799493del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207167 DNA;RNA MLPA;arrayCGH blood - SPRED1 1 Ludwine Messiaen