Variant #0000436619 (NC_000015.9:g.38591689C>T, SPRED1(NM_152594.2):c.148C>T)

Individual ID 00205941
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.38591689C>T
DNA change (hg38) g.38299488C>T
Published as -
ISCN -
DB-ID SPRED1_000009 See all 9 reported entries
Variant remarks Domain: EVH-1
Reference PubMed: Brems et al, 2012
ClinVar ID -
dbSNP ID rs148646547
Origin De novo
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.148C>T r.148c>u p.(Gln50*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206971 DNA SEQ blood - SPRED1 1 Ludwine Messiaen