Unique variants in the SOST gene

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 1 2 c.(0) r.0 p.0 - pathogenic g.? - - - SOST_000000 BAC recombination and transgenesis mice, no expression deletion allele PubMed: Loots 2005 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 - c.28G>A r.(?) p.(Val10Ile) - likely benign, VUS g.41836082C>T g.43758714C>T SOST(NM_025237.2):c.28G>A (p.(Val10Ile)) - SOST_000009 5 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs17882143 CLASSIFICATION record, Germline - 5/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
+/., -/. 2 1 c.70C>T r.(?) p.Gln24* - benign, pathogenic g.41836040G>A g.43758672G>A - - SOST_000001 linkage; not in 636 control chromosomes PubMed: Brunkow 2001, OMIM:var00001 - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.87dup r.(?) p.(Lys30Glnfs*3) - pathogenic (recessive) g.41836023dup g.43758655dup 87_88insC, NM_025237.2:c.87dupC:p.(Lys30Glnfs*3) - SOST_000012 - PubMed: Fayez 2015, PubMed: Maddirevula 2018 - rs377648601 Germline - - - - - Alaaeldin Fayez
?/. 1 - c.101C>T r.(?) p.(Thr34Met) - VUS g.41836009G>A - SOST(NM_025237.2):c.101C>T (p.(Thr34Met)) - SOST_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.159C>T r.(?) p.(Asn53=) - likely benign g.41835951G>A g.43758583G>A SOST(NM_025237.2):c.159C>T (p.N53=) - SOST_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.184G>A r.(?) p.(Gly62Arg) - likely pathogenic g.41835926C>T g.43758558C>T SOST(NM_025237.2):c.184G>A (p.(Gly62Arg)) - SOST_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 1i c.220+1G>T r.220_221insTins220+2_220+214, r.spl? p.Asp74fs*, p.del? - NA, pathogenic g.41835889C>A, g.41835890C>A g.43758521C>A 220G>T, IVS1+1G>C - SOST_000008 not in 100 control chromosomes, 1 more item PubMed: Balemans 2005, PubMed: Brunkow 2001 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 6 1i c.220+3A>T r.(spl?), r.220_221insGTTins220+4_220+214, r.spl p.(Asp74Glyfs*), p.(Asp74GlyfsX), p.(del?), p.Asp74fs* - NA, pathogenic g.41835887T>A g.43758519T>A - - SOST_000002 CHO cell expression cloning splice vector, effect on splicing, linkage, 1 more item PubMed: Balemans 2001, PubMed: Brunkow 2001, OMIM:var00002 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
-/. 4 1i c.221-67A>C r.(?), r.= p.(=), p.= - benign, NA g.41833198T>G g.43755830T>G A+2692G - SOST_000003 CHO cell expression cloning splice vector, no effect, linkage; not in 720 control chromosomes PubMed: Brunkow 2001 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 6 2 c.372G>A r.(?) p.(Trp124*) - pathogenic g.41832980C>T g.43755612C>T - - SOST_000004 linkage PubMed: Balemans 2001, PubMed: Kim 2008 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.376C>T r.(?) p.(Arg126*) - pathogenic g.41832976G>A g.43755608G>A - - SOST_000005 linkage PubMed: Balemans 2001 - - Germline - - - - - Johan den Dunnen
+/. 6 2_ c.*36262_*87979del r.(0) p.(0) - pathogenic g.41744731_41796448del g.43667363_43719080del - - SOST_000007 51.7 kb detected using probes MTO-156 and MTO-206, 51.7Kb deletion detected using D17S1789, 1 more item PubMed: Balemans 2002, PubMed: Staehling-Hampton 2002 - - Germline yes - - - - Johan den Dunnen
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