Variant #0000436600 (NC_000015.9:g.38591611C>T, SPRED1(NM_152594.2):c.70C>T)

Individual ID 00205922
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.38591611C>T
DNA change (hg38) g.38299410C>T
Published as -
ISCN -
DB-ID SPRED1_000014 See all 14 reported entries
Variant remarks Domain: EVH-1
Reference PubMed: Brems 2007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Ludwine Messiaen
Database submission license No license selected
Created by Ludwine Messiaen
Date created 2014-08-29 17:44:01 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPRED1 NM_152594.2 +/+ 2 c.70C>T r.70c>u p.Arg24*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206952 DNA;RNA SEQ;SEQ blood - SPRED1 1 Ludwine Messiaen