Variant #0000650599 (NC_000002.11:g.39251221T>C, SOS1(NM_005633.3):c.1132A>G)

Individual ID 00292742
Chromosome 2
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.39251221T>C
DNA change (hg38) g.39024080T>C
Published as -
ISCN -
DB-ID SOS1_000183
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs397517146
Origin Germline
Segregation -
Frequency 2/2740 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.1132A>G r.(?) p.(Thr378Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000293910 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq