Full data view for gene CHST3

Information The variants shown are described using the NM_004273.4 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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     
-/. - c.-294C>G r.(?) p.(=) Unknown - benign g.73724266C>G g.71964508C>G - - CHST3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.102T>G r.(?) p.(Val34=) Unknown - likely benign g.73765702T>G g.72005944T>G CHST3(NM_004273.4):c.102T>G (p.V34=) - CHST3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108C>G r.(?) p.(Val36=) Unknown - likely benign g.73765708C>G g.72005950C>G CHST3(NM_004273.4):c.108C>G (p.V36=) - CHST3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i_3 c.141-1_141inv r.spl p.? Paternal (inferred) - pathogenic g.73766929_73766930inv g.72007171_72007172inv IVS2-1G>C and 141G>C - CHST3_000002 - PubMed: Hermanns 2008, Journal: Hermanns 2008 - - Germline yes - - 0 - DNA SEQ - - Spondyloepiphyseal dysplasia with congenital joint dislocations - PubMed: Hermanns 2008, Journal: Hermanns 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents, unaffected sister M no Spain - - 0 - - 1 Johan den Dunnen
-?/. - c.276C>A r.(?) p.(Ser92Arg) Unknown - likely benign g.73767065C>A g.72007307C>A CHST3(NM_004273.4):c.276C>A (p.S92R) - CHST3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.313C>G r.(?) p.(Pro105Ala) Unknown - likely benign g.73767102C>G g.72007344C>G CHST3(NM_004273.4):c.313C>G (p.(Pro105Ala)) - CHST3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.417C>T r.(?) p.(Ala139=) Unknown - benign g.73767206C>T g.72007448C>T CHST3(NM_004273.4):c.417C>T (p.A139=) - CHST3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.488A>T r.(?) p.(Glu163Val) Unknown - VUS g.73767277A>T g.72007519A>T - - CHST3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.504C>T r.(?) p.(Ile168=) Unknown - likely benign g.73767293C>T - CHST3(NM_004273.4):c.504C>T (p.I168=) - CHST3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.617_618delinsCA r.(?) p.(Phe206Ser) Maternal (confirmed) - pathogenic g.73767406_73767407delinsCA g.72007648_72007649delinsCA 617-618TC>CA (F203X) - CHST3_000001 - PubMed: Hermanns 2008, Journal: Hermanns 2008 - - Germline yes - - 0 - DNA SEQ - - Spondyloepiphyseal dysplasia with congenital joint dislocations - PubMed: Hermanns 2008, Journal: Hermanns 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents, unaffected sister M no Spain - - 0 - - 1 Johan den Dunnen
+/. - c.665G>T r.(?) p.(Arg222Leu) Both (homozygous) - likely pathogenic (recessive) g.73767454G>T g.72007696G>T NM_004273.4:c.665G>T:p.(Arg222Leu) - CHST3_000025 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG1370 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - 1 LOVD
-?/. - c.705G>A r.(?) p.(Thr235=) Unknown - likely benign g.73767494G>A g.72007736G>A CHST3(NM_004273.4):c.705G>A (p.T235=) - CHST3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.766A>T r.(?) p.(Asn256Tyr) Unknown - VUS g.73767555A>T - CHST3(NM_004273.4):c.766A>T (p.N256Y) - CHST3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.793C>G r.(?) p.(Arg265Gly) Unknown - VUS g.73767582C>G g.72007824C>G CHST3(NM_004273.4):c.793C>G (p.(Arg265Gly)) - CHST3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.823G>A r.(?) p.(Val275Met) Unknown - VUS g.73767612G>A g.72007854G>A CHST3(NM_004273.4):c.823G>A (p.V275M, p.(Val275Met)) - CHST3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.823G>A r.(?) p.(Val275Met) Unknown - VUS g.73767612G>A - CHST3(NM_004273.4):c.823G>A (p.V275M, p.(Val275Met)) - CHST3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1003G>A r.(?) p.(Glu335Lys) Unknown - VUS g.73767792G>A g.72008034G>A CHST3(NM_004273.4):c.1003G>A (p.E335K) - CHST3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - benign g.73767859G>A g.72008101G>A CHST3(NM_004273.4):c.1070G>A (p.R357Q), CHST3(NM_004273.5):c.1070G>A (p.R357Q) - CHST3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - benign g.73767859G>A g.72008101G>A CHST3(NM_004273.4):c.1070G>A (p.R357Q), CHST3(NM_004273.5):c.1070G>A (p.R357Q) - CHST3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - benign g.73767859G>A g.72008101G>A CHST3(NM_004273.4):c.1070G>A (p.R357Q), CHST3(NM_004273.5):c.1070G>A (p.R357Q) - CHST3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1160G>A r.(?) p.(Arg387His) Parent #1 - benign g.73767949G>A g.72008191G>A - - CHST3_000023 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145384892 Germline - 4/2785 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
-?/. - c.1160G>A r.(?) p.(Arg387His) Unknown - likely benign g.73767949G>A - CHST3(NM_004273.4):c.1160G>A (p.(Arg387His)) - CHST3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173C>A r.(?) p.(Ile391=) Unknown - likely benign g.73767962C>A g.72008204C>A CHST3(NM_004273.4):c.1173C>A (p.I391=) - CHST3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1197C>T r.(?) p.(Asp399=) Unknown - likely benign g.73767986C>T g.72008228C>T CHST3(NM_004273.4):c.1197C>T (p.D399=) - CHST3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197C>T r.(?) p.(Asp399=) Unknown - likely benign g.73767986C>T g.72008228C>T CHST3(NM_004273.4):c.1197C>T (p.D399=) - CHST3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251G>C r.(?) p.(Thr417=) Unknown - likely benign g.73768040G>C g.72008282G>C CHST3(NM_004273.4):c.1251G>C (p.T417=) - CHST3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251G>C r.(?) p.(Thr417=) Unknown - likely benign g.73768040G>C g.72008282G>C CHST3(NM_004273.4):c.1251G>C (p.T417=) - CHST3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1336C>T r.(?) p.(Pro446Ser) Unknown - likely benign g.73768125C>T - CHST3(NM_004273.4):c.1336C>T (p.(Pro446Ser)) - CHST3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1347C>T r.(?) p.(Arg449=) Unknown - benign g.73768136C>T g.72008378C>T CHST3(NM_004273.4):c.1347C>T (p.R449=) - CHST3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1363C>G r.(?) p.(Leu455Val) Unknown - likely benign g.73768152C>G g.72008394C>G CHST3(NM_004273.4):c.1363C>G (p.L455V) - CHST3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1363C>G r.(?) p.(Leu455Val) Unknown - likely benign g.73768152C>G g.72008394C>G CHST3(NM_004273.4):c.1363C>G (p.L455V) - CHST3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1428C>T r.(?) p.(Phe476=) Unknown - benign g.73768217C>T g.72008459C>T CHST3(NM_004273.4):c.1428C>T (p.F476=) - CHST3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1428C>T r.(=) p.(=) Parent #1 - likely benign g.73768217C>T g.72008459C>T - - CHST3_000011 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75845750 Germline - 2/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
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