Full data view for gene SOST

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

39 entries on 1 page. Showing entries 1 - 39.
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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.(0) r.0 p.0 Parent #1 - pathogenic g.? - - - SOST_000000 BAC recombination and transgenesis mice, no expression deletion allele PubMed: Loots 2005 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.28G>A r.(?) p.(Val10Ile) Unknown - likely benign g.41836082C>T g.43758714C>T SOST(NM_025237.2):c.28G>A (p.(Val10Ile)) - SOST_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.28G>A r.(?) p.(Val10Ile) Parent #1 - VUS g.41836082C>T g.43758714C>T - - SOST_000009 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17882143 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
+/. 1 c.70C>T r.(?) p.Gln24* Both (homozygous) - pathogenic g.41836040G>A g.43758672G>A - - SOST_000001 linkage; not in 636 control chromosomes PubMed: Brunkow 2001, OMIM:var00001 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Beighton 1976, PubMed: Beighton 1979 22 South African families, 29 affecteds/33 unaffected carriers - - South Africa Afrikaner - 0 - - 29 Johan den Dunnen
-/. 1 c.70C>T r.(?) p.Gln24* Parent #1 - benign g.41836040G>A g.43758672G>A - - SOST_000001 linkage; not in 636 control chromosomes PubMed: Brunkow 2001, OMIM:var00001 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Beighton 1976, PubMed: Beighton 1979 22 South African families, 33 unaffected heterozygous carriers - - South Africa Afrikaner - 0 - - 33 Johan den Dunnen
+/. - c.87dup r.(?) p.(Lys30Glnfs*3) Both (homozygous) - pathogenic (recessive) g.41836023dup g.43758655dup NM_025237.2:c.87dupC:p.(Lys30Glnfs*3) - SOST_000012 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 16DG0974 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - 1 LOVD
+/. 1 c.87dup r.(?) p.(Lys30Glnfs*3) Both (homozygous) - pathogenic (recessive) g.41836023dup g.43758655dup 87_88insC - SOST_000012 - PubMed: Fayez 2015 - rs377648601 Germline - - - 0 - DNA SEQ White blood cells - SOST1 FamPatIV5 PubMed: Fayez 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes (Egypt) Africa - 0 - - 2 Alaaeldin Fayez
?/. - c.101C>T r.(?) p.(Thr34Met) Unknown - VUS g.41836009G>A - SOST(NM_025237.2):c.101C>T (p.(Thr34Met)) - SOST_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159C>T r.(?) p.(Asn53=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.184G>A r.(?) p.(Gly62Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - - - - - - - - - - - - - - - -
-/. 1i c.221-67A>C r.(?) p.(=) Paternal (confirmed) - benign g.41833198T>G g.43755830T>G - - SOST_000003 linkage; not in 720 control chromosomes PubMed: Brunkow 2001 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Tacconi 1998 - - - Senegal - - 0 - - 1 Johan den Dunnen
-/. 1i c.221-67A>C r.(?) p.(=) Maternal (confirmed) - benign g.41833198T>G g.43755830T>G - - SOST_000003 linkage; not in 720 control chromosomes PubMed: Brunkow 2001 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Tacconi 1998 - - - Senegal - - 0 - - 1 Johan den Dunnen
-/. 1i c.221-67A>C r.(?) p.(=) Parent #1 - benign g.41833198T>G g.43755830T>G - - SOST_000003 linkage; not in 720 control chromosomes PubMed: Brunkow 2001 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Tacconi 1998 - - - Senegal - - 0 - - 1 Johan den Dunnen
-/. 1i c.221-67A>C r.= p.= Unknown - NA g.41833198T>G g.43755830T>G A+2692G - SOST_000003 CHO cell expression cloning splice vector, no effect PubMed: Brunkow 2001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.372G>A r.(?) p.(Trp124*) Paternal (confirmed) - pathogenic g.41832980C>T g.43755612C>T - - SOST_000004 linkage PubMed: Balemans 2001 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 1999 - - yes Brazil - - 0 - - 1 Johan den Dunnen
+/. 2 c.372G>A r.(?) p.(Trp124*) Maternal (confirmed) - pathogenic g.41832980C>T g.43755612C>T - - SOST_000004 linkage PubMed: Balemans 2001 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 1999 - - yes Brazil - - 0 - - 1 Johan den Dunnen
+/. 2 c.372G>A r.(?) p.(Trp124*) Paternal (confirmed) - pathogenic g.41832980C>T g.43755612C>T - - SOST_000004 linkage PubMed: Kim 2008 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Kim 2008 said unrelated to ther cases - yes Brazil - - 0 - - 1 Johan den Dunnen
+/. 2 c.372G>A r.(?) p.(Trp124*) Maternal (confirmed) - pathogenic g.41832980C>T g.43755612C>T - - SOST_000004 linkage PubMed: Kim 2008 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Kim 2008 said unrelated to ther cases - yes Brazil - - 0 - - 1 Johan den Dunnen
+/. 2 c.372G>A r.(?) p.(Trp124*) Paternal (confirmed) - pathogenic g.41832980C>T g.43755612C>T - - SOST_000004 linkage PubMed: Kim 2008 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Kim 2008 said unrelated to ther cases - - Brazil - - 0 - - 1 Johan den Dunnen
+/. 2 c.372G>A r.(?) p.(Trp124*) Maternal (confirmed) - pathogenic g.41832980C>T g.43755612C>T - - SOST_000004 linkage PubMed: Kim 2008 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Kim 2008 said unrelated to ther cases - - Brazil - - 0 - - 1 Johan den Dunnen
+/. 2 c.376C>T r.(?) p.(Arg126*) Paternal (confirmed) - pathogenic g.41832976G>A g.43755608G>A - - SOST_000005 linkage PubMed: Balemans 2001 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 1999 - - yes United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.376C>T r.(?) p.(Arg126*) Maternal (confirmed) - pathogenic g.41832976G>A g.43755608G>A - - SOST_000005 linkage PubMed: Balemans 2001 - - Germline - - - 0 - DNA SEQ - - SOST - PubMed: Balemans 1999 - - yes United States - - 0 - - 1 Johan den Dunnen
+/. 2_ c.*36262_*87979del r.(0) p.(0) Both (homozygous) - pathogenic g.41744731_41796448del g.43667363_43719080del - - SOST_000007 51.7 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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