Full data view for gene TUSC3

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
Information The variants shown are described using the NM_006765.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/. _2i_11_ c.(?_309-9845)_*2493{0} r.? p.? Both (homozygous) - likely pathogenic g.(?_15498361)_(15842386_?)del - - - TUSC3_000014 464kb deletion PubMed: Ghosh 2017 - - Germline - - - - - DNA arraySNP, SEQ - - CDG FamPatIV1 PubMed: Ghosh 2017 4-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 7 Johan den Dunnen
+/. _2i_11_ c.(?_309-9845)_*2493{0} r.? p.? Parent #1 - likely pathogenic g.(?_15498361)_(15842386_?)del - - - TUSC3_000014 464kb deletion PubMed: Ghosh 2017 - - Germline - - - - - DNA arraySNP, SEQ - - CDG FamPatIV2 PubMed: Ghosh 2017 PatIV2 M yes Pakistan - - - - - 1 Johan den Dunnen
+/. _2i_11_ c.(?_309-9845)_*2493{0} r.? p.? Both (homozygous) - likely pathogenic (recessive) g.(?_15498361)_(15842386_?)del - - - TUSC3_000014 464kb deletion PubMed: Ghosh 2017 - - Germline - - - - - DNA arraySNP - - ID FamPatIV3 PubMed: Ghosh 2017 PatIV3 F yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1_1i_ c.-344_(138+35595_?){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_15230119)_(15433672_?)del - 15,230,119-15,433,672 del - TUSC3_000020 203  kb deletion PubMed: Loddo 2013 - - Germline - - - - - DNA arraySNP - - ID patient PubMed: Loddo 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Italy - - - - - 1 Johan den Dunnen
+/. _1_1i c.-344_138+27000{0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.15303484_15425077del - hg18 chr8:15347852-15469447del - TUSC3_000018 - PubMed: Garshasbi 2008 - - Germline yes - - - - DNA arraySNP, SEQ - - ID family PubMed: Garshasbi 2008 4-generation family, 7 affected (5F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Iran - - - - - 7 Johan den Dunnen
+/. 1i_11_ c.139-3270_*2493{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.15477319_15647991del - hg18 chr8:15521688-15692362del - TUSC3_000019 171 kb deletion PubMed: Khan 2011 - - Germline yes - - - - DNA arraySNP, SEQ - - ID family PubMed: Khan 2011 4-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.1A>T r.(?) p.(Met1?) Unknown - likely pathogenic g.15397940A>T - TUSC3(NM_001356429.1):c.1A>T (p.M1?) - TUSC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3G>A r.(?) p.(Met1?) Unknown - likely pathogenic g.15397942G>A g.15540433G>A - - TUSC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_7i c.(?_138+5362)_(799-7036_?)dup r.862_863ins[[NC_000008.10:g.15388432_15388526];139_?] p.? Both (homozygous) - pathogenic (recessive) g.(?_15403439)_(15581139_?)dup - 15403439–15581139dup - TUSC3_000021 genomic nucleotide positions in paper are not correct PubMed: El Chehadeh 2015 - - Germline yes - - - - DNA, RNA arraySNP, RT-PCR, SEQ - - ID family PubMed: El Chehadeh 2015 6-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes France - - - - - 2 Johan den Dunnen
+?/. - c.(?_138+30325)_(798+291_?)del r.(?) p.(Asn47_Val266del) Unknown - VUS g.(?_15428402)_(15531636_?)del - - arr[hg19] 8p22(15,428,402-15,531,636)x1 TUSC3_000010 - PubMed: Granadillo 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Granadillo 2020 - M - - white - - - - 1 Johan den Dunnen
+/. - c.163C>T r.(?) p.(Gln55*) Both (homozygous) - pathogenic (recessive) g.15480613C>T g.15623104C>T - - TUSC3_000016 - PubMed: Garshasbi 2011 - - Germline yes - - - - DNA arraySNP, SEQ - - ID FamPatIV4/6/7 PubMed: Garshasbi 2011 5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Iran - - - - - 3 Johan den Dunnen
+/. - c.225del r.(?) p.(Lys75Asnfs*3) Both (homozygous) - pathogenic (recessive) g.15480675del g.15623166del 222delA - TUSC3_000017 - PubMed: Al-Amri 2016 - - Germline yes - - - - DNA arraySNP, arrayCNV, SEQ - - ID family PubMed: Al-Amri 2016 5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Oman - - - - - 4 Johan den Dunnen
-/. - c.309-6T>C r.(=) p.(=) Unknown - benign g.15508200T>C g.15650691T>C TUSC3(NM_006765.4):c.309-6T>C - TUSC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i_11_ c.(308+1_309-1)_ (*1_?)del r.? p.? Both (homozygous) - likely pathogenic g.(?_15508206)_(15621757_?)del - chr8:15508206-?_15621757+?del - TUSC3_000012 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4436 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.426G>A r.309_426del p.Arg103Serfs*4 Both (homozygous) - likely pathogenic (recessive) g.15508323G>A g.15650814G>A - - TUSC3_000022 transcripts cycloheximide insensitive PubMed: Bournazos 2022 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA urothelial cells trio WES ? A188 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - 1 Johan den Dunnen
-?/. - c.426+15C>T r.(=) p.(=) Unknown - likely benign g.15508338C>T g.15650829C>T TUSC3(NM_006765.4):c.426+15C>T - TUSC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.544A>T r.(?) p.(Ile182Phe) Both (homozygous) - pathogenic (recessive) g.15517133A>T g.15659624A>T - - TUSC3_000009 - PubMed: Makrythanasis 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Family_43 PubMed: Makrythanasis 2014 family, 3 affected - yes Jordan - - - - - 3 Johan den Dunnen
+/. - c.580A>T r.(?) p.(Arg194Ter) Unknown - pathogenic g.15519677A>T g.15662168A>T TUSC3(NM_006765.4):c.580A>T (p.R194*) - TUSC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.714A>G r.[(714a>g),spl] p.[(Ile238Met),?] Both (homozygous) - pathogenic (recessive) g.15531261A>G g.15673752A>G - - TUSC3_000007 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR90Pat5 PubMed: Santos-Cortez 2018 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.714A>G r.[(714a>g),spl] p.[(Ile238Met),?] Both (homozygous) - pathogenic (recessive) g.15531261A>G g.15673752A>G - - TUSC3_000007 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR90Pat6 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - 1 Johan den Dunnen
./. - c.739A>G r.(?) p.(Met247Val) Unknown - VUS g.15531286A>G g.15673777A>G NM_006765.3:c.739A>G (Met247Val) - TUSC3_000003 variant not associated with phenotype PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 23033978-Trio39 PubMed: de Ligt 2012 - M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.768T>C r.(?) p.(Tyr256=) Unknown - likely benign g.15531315T>C - TUSC3(NM_001356429.1):c.768T>C (p.Y256=) - TUSC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.786dup r.(?) p.(Asn263Glnfs*38) Both (homozygous) - pathogenic (recessive) g.15531333dup g.15673824dup 787_788insC - TUSC3_000015 - PubMed: Molinari 2008 - - Germline yes - - - - DNA arraySNP, SEQ - - ID Fam1PatV1/4 PubMed: Molinari 2008 5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M yes France - - - - - 1 Johan den Dunnen
?/. - c.992C>A r.(?) p.(Ser331*) Parent #1 - VUS g.15605938C>A g.15748429C>A - - TUSC3_000008 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200667343 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.*46+174G>A r.(=) p.(=) Unknown - VUS g.15615538G>A - TUSC3(NM_001356429.2):c.*47-1G>A - TUSC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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