Variant #0000436830 (NC_000002.11:g.39278394A>G, SOS1(NM_005633.3):c.755T>C)

Individual ID 00206151
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.39278394A>G
DNA change (hg38) g.39051253A>G
Published as -
ISCN -
DB-ID SOS1_000027 See all 3 reported entries
Variant remarks the consequences of the variant are functional
Reference Moncini et al., submitted to European Journal of Human Genetics
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Paola Riva
Database submission license No license selected
Created by Paola Riva
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOS1 NM_005633.3 +?/? 6 c.755T>C r.(?) p.(Ile252Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207183 DNA SEQ - - SOS1 1 Paola Riva