Full data view for gene SOS1

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

5 entries on 1 page. Showing entries 1 - 5.
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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 - - - - - DNA SEQ - - NS - - # of cases: 1, sporadic; 2, fam unknown - - - - - - - - 3 LOVD
+/? 4 c.508A>G r.(?) p.(Lys170Glu) Parent #1 - pathogenic g.39283845T>C g.39056704T>C - - SOS1_000002 - PubMed: Ko 2008 - - Unknown - - - - - DNA SEQ - - NS - - - - - - - - - - - 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)), SOS1(NM_005633.4):c.508A>G (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)), SOS1(NM_005633.4):c.508A>G (p.K170E) - SOS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508A>G r.(?) p.(Lys170Glu) Unknown ACMG pathogenic (dominant) g.39283845T>C g.39056704T>C - - SOS1_000002 ACMG PM2, PP2, PP3, PP5 PubMed: Marinakis 2021 - rs397517172 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 9153 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
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