Full data view for gene SOST

Information The variants shown are described using the NM_025237.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 1i c.220+3A>T r.spl p.(Asp74GlyfsX) Paternal (confirmed) - pathogenic g.41835887T>A g.43758519T>A - - SOST_000002 linkage; not in 720 control chromosomes PubMed: Brunkow 2001, OMIM:var00002 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Tacconi 1998 - - - Senegal - - 0 - - 1 Johan den Dunnen
+/. 1i c.220+3A>T r.spl p.(Asp74Glyfs*) Maternal (confirmed) - pathogenic g.41835887T>A g.43758519T>A - - SOST_000002 linkage; not in 720 control chromosomes PubMed: Brunkow 2001, OMIM:var00002 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Tacconi 1998 - - - Senegal - - 0 - - 1 Johan den Dunnen
+/. 1i c.220+3A>T r.spl p.(Asp74Glyfs*) Parent #1 - pathogenic g.41835887T>A g.43758519T>A - - SOST_000002 linkage; not in 720 control chromosomes PubMed: Brunkow 2001, OMIM:var00002 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Tacconi 1998 - - - Senegal - - 0 - - 1 Johan den Dunnen
+/. 1i c.220+3A>T r.(spl?) p.(del?) Paternal (confirmed) - pathogenic g.41835887T>A g.43758519T>A - - SOST_000002 linkage PubMed: Balemans 2001 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 2001 - - - Senegal - - 0 - - 1 Johan den Dunnen
+/. 1i c.220+3A>T r.(spl?) p.(del?) Maternal (confirmed) - pathogenic g.41835887T>A g.43758519T>A - - SOST_000002 linkage PubMed: Balemans 2001 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 2001 - - - Senegal - - 0 - - 1 Johan den Dunnen
+/. 1i c.220+3A>T r.220_221insGTTins220+4_220+214 p.Asp74fs* Unknown - NA g.41835887T>A g.43758519T>A - - SOST_000002 CHO cell expression cloning splice vector, effect on splicing PubMed: Brunkow 2001, OMIM:var00002 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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