Variant #0000436844 (NC_000002.11:g.39250305T>C, SOS1(NM_005633.3):c.1264A>G)

Individual ID 00206165
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.39250305T>C
DNA change (hg38) g.39023164T>C
Published as -
ISCN -
DB-ID SOS1_000028
Variant remarks aa change predicted to be probably damaging by PolyPhen; aa change predicted to tolerated 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) 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.1264A>G r.(?) p.(Met422Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207197 DNA SEQ - - SOS1 1 LOVD