Variant #0000400807 (NC_000002.11:g.39262361G>T, SOS1(NM_005633.3):c.1066C>A)

Individual ID 00177014
Chromosome 2
Allele Paternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.39262361G>T
DNA change (hg38) g.39035220G>T
Published as -
ISCN -
DB-ID SOS1_000061
Variant remarks -
Reference PubMed: Abela 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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.1066C>A r.(?) p.(Leu356Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177906 DNA SEQ-NG-I blood WES - 5 Anaïs Begemann