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     
+/+ 6 c.806T>G r.(?) p.(Met269Arg) Unknown - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 Original exon: 7 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, fam unknown - - - - - 0 - - 1 LOVD
+/? 6 c.806T>G r.(?) p.(Met269Arg) Parent #1 - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 not in 310 control chromosomes PubMed: Tartaglia 2007, OMIM:var0003 - - De novo - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+/? 6 c.806T>G r.(?) p.(Met269Arg) Parent #1 - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 - PubMed: Roberts 2007, OMIM:var0003 - - Unknown - - - 0 - DNA SEQ - - NS - - - M - - - - 0 - - 1 LOVD
+/? 6 c.806T>G r.(?) p.(Met269Arg) Parent #1 - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 - PubMed: Roberts 2007, OMIM:var0003 - - Unknown - - - 0 - DNA SEQ - - NS - - - M - - - - 0 - - 1 LOVD
+/? 6 c.806T>G r.(?) p.(Met269Arg) Parent #1 - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 - PubMed: Zenker 2007 - - De novo - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
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