Variant #0000436820 (NC_000002.11:g.39294873T>C, SOS1(NM_005633.3):c.109A>G)

Individual ID 00206141
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.39294873T>C
DNA change (hg38) g.39067732T>C
Published as -
ISCN -
DB-ID SOS1_000034 See all 2 reported entries
Variant remarks aa change predicted to be benign by PolyPhen; aa change predicted to be tolerated by SIFT; variant at a conserved residue/ Original exon: 3
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) 0.00015 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 +/? 2 c.109A>G r.(?) p.(Thr37Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207173 DNA SEQ - - SOS1 1 LOVD