Variant #0000436608 (NC_000015.9:g.38591633G>T, SPRED1(NM_152594.2):c.92G>T)

Individual ID 00205930
Chromosome 15
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.38591633G>T
DNA change (hg38) g.38299432G>T
Published as -
ISCN -
DB-ID SPRED1_000119
Variant remarks novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1
Reference Messiaen UAB, unpublished novel mutation
ClinVar ID -
dbSNP ID -
Origin Unknown
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.92G>T r.92g>u p.Trp31Leu



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206960 DNA;RNA SEQ;SEQ blood - SPRED1 1 Ludwine Messiaen