Variant #0000650601 (NC_000002.11:g.39278352G>T, SOS1(NM_005633.3):c.797C>A)

Individual ID 00292744
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.39278352G>T
DNA change (hg38) g.39051211G>T
Published as -
ISCN -
DB-ID SOS1_000003 See all 4 reported entries
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs137852812
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
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 +/. - c.797C>A r.(?) p.(Thr266Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000293912 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq