Variant #0000436851 (NC_000002.11:g.39250270_39250275del, SOS1(NM_005633.3):c.1294_1299del)

Individual ID 00206172
Chromosome 2
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.39250270_39250275del
DNA change (hg38) g.39023129_39023134del
Published as c.1294_1299delTGGGAG
ISCN -
DB-ID SOS1_000008
Variant remarks variant not occurring in over 300 population-matched unaffected subjects; unavailable parent DNA samples/ Original exon: 11
Reference PubMed: Lepri et al 2011
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 LOVD
Database submission license No license selected
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOS1 NM_005633.3 +/+ 10 c.1294_1299del r.(?) p.(Trp432_Glu433del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207204 DNA SEQ - - SOS1 1 LOVD