Variant #0000436845 (NC_000002.11:g.39250299C>T, SOS1(NM_005633.3):c.1270G>A)

Individual ID 00206166
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.39250299C>T
DNA change (hg38) g.39023158C>T
Published as -
ISCN -
DB-ID SOS1_000029
Variant remarks aa change predicted to be possibly damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ 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) 0 View details
Owner LOVD
Database submission license No license selected
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOS1 NM_005633.3 +/+? 10 c.1270G>A r.(?) p.(Glu424Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207198 DNA SEQ - - SOS1 1 LOVD