Variant #0000810840 (NC_000015.9:g.38591587C>T, SPRED1(NM_152594.2):c.46C>T)

Individual ID 00383051
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.38591587C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID SPRED1_000011 See all 11 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andri Miltiadous
Database submission license No license selected
Created by Andri Miltiadous
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPRED1 NM_152594.2 +/. - c.46C>T r.(?) p.(Arg16*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384275 DNA SEQ-NG - - - 1 Andri Miltiadous