Variant #0000436822 (NC_000002.11:g.39285854G>C, SOS1(NM_005633.3):c.305C>G)

Individual ID 00206143
Chromosome 2
Allele Parent #1
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.39285854G>C
DNA change (hg38) g.39058713G>C
Published as -
ISCN -
DB-ID SOS1_000057 See all 2 reported entries
Variant remarks -
Reference PubMed: Denayer 2010
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOS1 NM_005633.3 +/? 3 c.305C>G r.(?) p.(Pro102Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207175 DNA SEQ - - SOS1 1 LOVD