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     
+/. 2_ c.*36262_*87979del r.(0) p.(0) Both (homozygous) - pathogenic g.41744731_41796448del g.43667363_43719080del - - SOST_000007 51.7 kb detected using probes MTO-156 and MTO-206 PubMed: Balemans 2002 - - Germline yes - - 0 - DNA Southern, PCR, SEQ - - VBCH - PubMed: Van Hul 1998 extended 10-generation family, 13 affecteds (6F, 7M) F;M - Netherlands - - 0 - - 13 Johan den Dunnen
+/. 2_ c.*36262_*87979del r.(0) p.(0) Both (homozygous) - pathogenic g.41744731_41796448del g.43667363_43719080del - - SOST_000007 51.7Kb deletion; shared haplotype PubMed: Balemans 2002 - - Germline - - - 0 - DNA Southern, PCR, SEQ - - VBCH 11836356-Pat1 PubMed: Balemans 2002 father maternal grandmother and father paternal grandmother were brothers M yes Netherlands - - 0 - - 1 Johan den Dunnen
+/. 2_ c.*36262_*87979del r.(0) p.(0) Both (homozygous) - pathogenic g.41744731_41796448del g.43667363_43719080del - - SOST_000007 51.7Kb deletion; shared haplotype PubMed: Balemans 2002 - - Germline yes - - 0 - DNA Southern, PCR, SEQ - - VBCH 11836356-Pat2 PubMed: Balemans 2002 2-generation family, affected sister/brother, Pat2 F yes Netherlands - - 0 - - 2 Johan den Dunnen
+/. 2_ c.*36262_*87979del r.(0) p.(0) Both (homozygous) - pathogenic g.41744731_41796448del g.43667363_43719080del - - SOST_000007 51.7Kb deletion; shared haplotype PubMed: Balemans 2002 - - Germline yes - - 0 - DNA Southern, PCR, SEQ - - VBCH 11836356-Pat3 PubMed: Balemans 2002 Pat3 M yes Netherlands - - 0 - - 1 Johan den Dunnen
+/. 2_ c.*36262_*87979del r.(0) p.(0) Paternal (confirmed) - pathogenic g.41744731_41796448del g.43667363_43719080del - - SOST_000007 51.7Kb deletion detected using D17S1789 PubMed: Staehling-Hampton 2002 - - Germline - - - 0 - DNA Southern, PCR, SEQ - - VBCH - PubMed: Van Hul 1998 extended Dutch family (common acestor 9 generations ago) - - Netherlands - - 0 - - 15 Johan den Dunnen
+/. 2_ c.*36262_*87979del r.(0) p.(0) Maternal (confirmed) - pathogenic g.41744731_41796448del g.43667363_43719080del - - SOST_000007 51.7Kb deletion detected using D17S1789 PubMed: Staehling-Hampton 2002 - - Germline - - - 0 - DNA Southern, PCR, SEQ - - VBCH - PubMed: Van Hul 1998 extended Dutch family (common acestor 9 generations ago) - - Netherlands - - 0 - - 15 Johan den Dunnen
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