Variant #0000438842 (NC_000002.11:g.39347500G>C, SOS1(NM_005633.3):c.64C>G)

Individual ID 00207805
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.39347500G>C
DNA change (hg38) g.39120359G>C
Published as -
ISCN -
DB-ID SOS1_000156
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs773916713
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOS1 NM_005633.3 ?/. - c.64C>G r.(?) p.Leu22Val



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208846 DNA SEQ-NG - - - 1 Andreas Laner