Variant #0000436818 (NC_000015.9:g.38614538dup, SPRED1(NM_152594.2):c.304dup)

Individual ID 00205915, 00205923
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.38614538dup
DNA change (hg38) g.38322337dup
Published as -
ISCN -
DB-ID SPRED1_000023 See all 4 reported entries
Variant remarks description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S66) / Domain: EVH-1
Reference PubMed: Spencer 2011
ClinVar ID -
dbSNP ID -
Origin De novo
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 +/+ 3 c.304dup r.304dup p.Thr102Asnfs*7



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207170 DNA SEQ melanocytes, cultured from a cafe-au-lait macule - SPRED1 1 Ludwine Messiaen
0000207171 DNA SEQ melanocytes, cultured from a cafe-au-lait macule - SPRED1 1 Ludwine Messiaen