Variant #0000436560 (NC_000015.9:g.38545412A>T, SPRED1(NM_152594.2):c.26A>T)

Individual ID 00205882
Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.38545412A>T
DNA change (hg38) g.38253211A>T
Published as -
ISCN -
DB-ID SPRED1_000001 See all 4 reported entries
Variant remarks Domain: EVH-1
Reference PubMed: Brems et al, 2012
ClinVar ID -
dbSNP ID rs200157475
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0007 View details
Owner Ludwine Messiaen
Database submission license No license selected
Created by Ludwine Messiaen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPRED1 NM_152594.2 ?/? 1 c.26A>T r.26a>u p.Asp9Val



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206912 DNA;RNA SEQ;SEQ blood - SPRED1 1 Ludwine Messiaen