Variant #0000436564 (NC_000015.9:g.38545413C>A, SPRED1(NM_152594.2):c.27C>A)

Individual ID 00205886
Chromosome 15
Allele Paternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.38545413C>A
DNA change (hg38) g.38253212C>A
Published as -
ISCN -
DB-ID SPRED1_000134
Variant remarks Domain: EVH-1
Reference Trevisson, University of Padova, unpublished novel mutation
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Eva Trevisson
Database submission license No license selected
Created by Eva Trevisson
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPRED1 NM_152594.2 -?/? 1 c.27C>A r.(?) p.(Asp9Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206916 DNA SEQ blood - SPRED1 1 Eva Trevisson