Variant #0000436595 (NC_000015.9:g.38591611C>T, SPRED1(NM_152594.2):c.70C>T)

Individual ID 00205917
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 13 reported entries
Variant remarks description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1
Reference PubMed: Brems 2007
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 +/+ 2 c.70C>T r.70c>u p.Arg24*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206947 DNA SEQ blood - SPRED1 1 Ludwine Messiaen