Variant #0000436658 (NC_000015.9:g.38614565dup, SPRED1(NM_152594.2):c.331dup)

Individual ID 00205980
Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.38614565dup
DNA change (hg38) g.38322364dup
Published as -
ISCN -
DB-ID SPRED1_000135
Variant remarks Domain: EVH-1
Reference PubMed: Pasmant 2014
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 Beatrice Parfait
Database submission license No license selected
Created by Beatrice Parfait
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPRED1 NM_152594.2 ?/+ 3 c.331dup r.(?) p.(Ala111fs)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207010 DNA SEQ Blood - SPRED1 1 Beatrice Parfait