Variant #0000436605 (NC_000015.9:g.38591628_38591629dup, SPRED1(NM_152594.2):c.87_88dup)

Individual ID 00205927
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.38591628_38591629dup
DNA change (hg38) g.38299427_38299428dup
Published as -
ISCN -
DB-ID SPRED1_000016
Variant remarks Domain: EVH-1
Reference PubMed: Spencer 2011 S54
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 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 +/+ 2 c.87_88dup r.87_88dup p.Gly30Valfs*11



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206957 DNA;RNA SEQ;SEQ blood - SPRED1 1 Ludwine Messiaen