Variant #0000436568 (NC_000015.9:g.38545461A>G, SPRED1(NM_152594.2):c.32+43A>G)

Individual ID 00205890
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.38545461A>G
DNA change (hg38) g.38253260A>G
Published as -
ISCN -
DB-ID SPRED1_000118
Variant remarks Domain: EVH-1
Reference -
ClinVar ID -
dbSNP ID rs189604029
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00044 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.32+43A>G r.= p.=



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206920 DNA;RNA SEQ;SEQ blood - SPRED1 1 Ludwine Messiaen