Full data view for gene CHST3

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-294C>G benign r.(?) p.(=) Unknown g.73724266C>G - (p.?) - CHST3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.102T>G likely benign r.(?) p.(=) Unknown g.73765702T>G - CHST3(NM_004273.4):c.102T>G (p.=) - CHST3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108C>G likely benign r.(?) p.(=) Unknown g.73765708C>G - CHST3(NM_004273.4):c.108C>G (p.=) - CHST3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i_3 c.141-1_141delinsCC - r.spl p.? Paternal (inferred) g.73766929_73766930delinsCC g.72007171_72007172delinsCC 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.269T>C likely benign r.(?) p.(Leu90Pro) Unknown g.73767058T>C - CHST3(NM_004273.4):c.269T>C (p.(Leu90Pro)) - CHST3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276C>A likely benign r.(?) p.(Ser92Arg) Unknown g.73767065C>A - CHST3(NM_004273.4):c.276C>A (p.S92R) - CHST3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.417C>T benign r.(?) p.(=) Unknown g.73767206C>T - CHST3(NM_004273.4):c.417C>T (p.A139=) - CHST3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.488A>T VUS r.(?) p.(Glu163Val) Unknown g.73767277A>T - CHST3(NM_004273.4):c.488A>T (p.Glu163Val) - CHST3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.617_618delinsCA - r.(?) p.(Phe206Ser) Maternal (confirmed) 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.705G>A likely benign r.(?) p.(=) Unknown g.73767494G>A - CHST3(NM_004273.4):c.705G>A (p.=) - CHST3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.823G>A VUS r.(?) p.(Val275Met) Unknown g.73767612G>A - CHST3(NM_004273.4):c.823G>A (p.(Val275Met)) - CHST3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1003G>A VUS r.(?) p.(Glu335Lys) Unknown g.73767792G>A - CHST3(NM_004273.4):c.1003G>A (p.E335K) - CHST3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1070G>A benign r.(?) p.(Arg357Gln) Unknown g.73767859G>A - CHST3(NM_004273.4):c.1070G>A (p.R357Q) - CHST3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1070G>A benign r.(?) p.(Arg357Gln) Unknown g.73767859G>A - CHST3(NM_004273.4):c.1070G>A (p.R357Q) - CHST3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1070G>A benign r.(?) p.(Arg357Gln) Unknown g.73767859G>A - CHST3(NM_004273.4):c.1070G>A (p.R357Q) - CHST3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1129G>A likely benign r.(?) p.(Gly377Arg) Unknown g.73767918G>A - CHST3(NM_004273.4):c.1129G>A (p.(Gly377Arg)) - CHST3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173C>A likely benign r.(?) p.(=) Unknown g.73767962C>A - CHST3(NM_004273.4):c.1173C>A (p.=) - CHST3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1197C>T likely benign r.(?) p.(=) Unknown g.73767986C>T - CHST3(NM_004273.4):c.1197C>T (p.=) - CHST3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251G>C likely benign r.(?) p.(=) Unknown g.73768040G>C - CHST3(NM_004273.4):c.1251G>C (p.=) - CHST3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251G>C likely benign r.(?) p.(=) Unknown g.73768040G>C - CHST3(NM_004273.4):c.1251G>C (p.=) - CHST3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1347C>T benign r.(?) p.(=) Unknown g.73768136C>T - CHST3(NM_004273.4):c.1347C>T (p.R449=) - CHST3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1363C>G likely benign r.(?) p.(Leu455Val) Unknown g.73768152C>G - CHST3(NM_004273.4):c.1363C>G (p.L455V) - CHST3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1363C>G likely benign r.(?) p.(Leu455Val) Unknown g.73768152C>G - CHST3(NM_004273.4):c.1363C>G (p.L455V) - CHST3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1428C>T benign r.(?) p.(=) Unknown g.73768217C>T - CHST3(NM_004273.4):c.1428C>T (p.=) - CHST3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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