Full data view for gene SOST

Information The variants shown are described using the NM_025237.2 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     
+/. 1i c.220+1G>T r.spl? p.del? Paternal (inferred) - pathogenic g.41835889C>A g.43758521C>A IVS1+1G>C - SOST_000008 not in 100 control chromosomes PubMed: Balemans 2005 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 2005 brother of 15869924-P2 M - Germany - - 0 - - 1 Johan den Dunnen
+/. 1i c.220+1G>T r.spl? p.del? Maternal (inferred) - pathogenic g.41835889C>A g.43758521C>A IVS1+1G>C - SOST_000008 not in 100 control chromosomes PubMed: Balemans 2005 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 2005 brother of 15869924-P2 M - Germany - - 0 - - 1 Johan den Dunnen
+/. 1i c.220+1G>T r.spl? p.del? Paternal (inferred) - pathogenic g.41835889C>A g.43758521C>A IVS1+1G>C - SOST_000008 not in 100 control chromosomes PubMed: Balemans 2005 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 2005 sister of 15869924-P1 F - Germany - - 0 - - 1 Johan den Dunnen
+/. 1i c.220+1G>T r.spl? p.del? Maternal (inferred) - pathogenic g.41835889C>A g.43758521C>A IVS1+1G>C - SOST_000008 not in 100 control chromosomes PubMed: Balemans 2005 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 2005 sister of 15869924-P1 F - Germany - - 0 - - 1 Johan den Dunnen
+/. 1i c.220+1G>T r.220_221insTins220+2_220+214 p.Asp74fs* Unknown - NA g.41835890C>A - 220G>T - SOST_000008 CHO cell expression cloning splice vector, effect on splicing Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Brunkow 2001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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