Variant #0000436653 (NC_000015.9:g.38614554_38614567del, SPRED1(NM_152594.2):c.320_333del)

Individual ID 00205975
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.38614554_38614567del
DNA change (hg38) g.38322353_38322366del
Published as -
ISCN -
DB-ID SPRED1_000028
Variant remarks Domain: EVH-1
Reference PubMed: Messiaen 2009
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 Ludwine Messiaen
Database submission license No license selected
Created by Ludwine Messiaen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPRED1 NM_152594.2 +/+ 3 c.320_333del r.(?) p.(Ala107Valfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207005 DNA SEQ blood - SPRED1 1 Ludwine Messiaen