Variant #0000436839 (NC_000002.11:g.39278343A>C, SOS1(NM_005633.3):c.806T>G)

Individual ID 00206160
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.39278343A>C
DNA change (hg38) g.39051202A>C
Published as -
ISCN -
DB-ID SOS1_000005 See all 5 reported entries
Variant remarks -
Reference PubMed: Roberts 2007, OMIM:var0003
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 +/? 6 c.806T>G r.(?) p.(Met269Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207192 DNA SEQ - - SOS1 1 LOVD