Variant #0000436566 (NC_000015.9:g.38545416C>A, SPRED1(NM_152594.2):c.30C>A)

Individual ID 00205888
Chromosome 15
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.38545416C>A
DNA change (hg38) g.38253215C>A
Published as -
ISCN -
DB-ID SPRED1_000003 See all 2 reported entries
Variant remarks Domain: EVH-1
Reference PubMed: Brems et al, 2012
ClinVar ID -
dbSNP ID rs201692618
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00064 View details
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 -?/-? 1 c.30C>A r.30c>a p.Asn10Lys



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206918 DNA;RNA SEQ;SEQ blood - SPRED1 1 Ludwine Messiaen