Variant #0000436695 (NC_000015.9:g.38631960G>A, SPRED1(NM_152594.2):c.446G>A)

Individual ID 00206017
Chromosome 15
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.38631960G>A
DNA change (hg38) g.38339759G>A
Published as -
ISCN -
DB-ID SPRED1_000032 See all 3 reported entries
Variant remarks description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S65/UAB-SB1) / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:no; M_musculus:no; O_cuniculus:no; R_norvegicus:no; X_tropicalis:yes
Reference PubMed: Brems 2007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00085 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 -/- 5 c.446G>A r.446g>a p.Ser149Asn



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207047 DNA SEQ blood - SPRED1 1 Ludwine Messiaen