Full data view for gene SOS1

Information The variants shown are described using the NM_005633.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 4 c.508A>G r.(?) p.(Lys170Glu) Unknown - pathogenic g.39283845T>C g.39056704T>C - - SOS1_000002 Original exon: 5 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, sporadic; 2, fam unknown - - - - - 0 - - 3 LOVD
+/? 4 c.508A>G r.(?) p.(Lys170Glu) Parent #1 - pathogenic g.39283845T>C g.39056704T>C - - SOS1_000002 - PubMed: Ko 2008 - - Unknown - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+?/. - c.508A>G r.(?) p.(Lys170Glu) Unknown - likely pathogenic g.39283845T>C g.39056704T>C SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E) - SOS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508A>G r.(?) p.(Lys170Glu) Unknown - pathogenic g.39283845T>C g.39056704T>C SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E) - SOS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query