Variant #0000436571 (NC_000015.9:g.?, SPRED1(NM_152594.2):c.(?_33-5928)_(423+19_?)del)

Individual ID 00205893
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.33-5928-?_423+19+?del
ISCN -
DB-ID SPRED1_000094
Variant remarks ~31.4-73.7kb deletion / Domain: EVH-1
Reference Messiaen UAB, unpublished novel mutation
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 +/+ 2-4 c.(?_33-5928)_(423+19_?)del r.33_423del p.Asn12Profs*17



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206923 DNA;RNA SEQ;SEQ;MLPA blood - SPRED1 1 Ludwine Messiaen