Variant #0000436819 (NC_000002.11:g.?, SOS1(NM_005633.3):c.?)

Individual ID 00206140
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.?
DNA change (hg38) -
Published as -
ISCN -
DB-ID SOS1_000042
Variant remarks -
Reference PubMed: Barroso 2003
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOS1 NM_005633.3 +/? ? c.? r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207172 DNA SEQ - - SOS1 1 LOVD