Full data view for gene WISP3

NOTE: gene name changed from WISP3 to CCN6
Information The variants shown are described using the transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - likely benign g.112382393G>A g.112061190G>A - - WISP3_000019 initially variant c.248G>A (Gly83Glu) was reported, corrected in 2015 PubMed: Dalal 2012, PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam3Pat3 PubMed: Dalal 2012 Brother of P4 M yes India - - - - - 2 Gandham SriLakshmi Bhavani
-?/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - likely benign g.112382393G>A g.112061190G>A - - WISP3_000019 initially variant c.248G>A (Gly83Glu) was reported, corrected in 2015 PubMed: Dalal 2012, PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam3Pat4 PubMed: Dalal 2012 Brother of P3 M yes India - - - - - 1 Gandham SriLakshmi Bhavani
-?/. - c.248G>A r.(?) p.(Gly83Glu) Unknown - likely benign g.112382393G>A - WISP3(NM_003880.3):c.248G>A (p.(Gly83Glu)) - WISP3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat2 PubMed: Garcia Segarra 2012 patient - - - - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat3 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Italy - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat4 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat5 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat6 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat7 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat8 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat9 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat10 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat11 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat12 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat13 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat14 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat15 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat16 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat17 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat18 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat19 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Parent #1 - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat38 PubMed: Garcia Segarra 2012 patient - - Italy - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.248g>a p.Gly83Glu Parent #1 - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PPRD Pat48 PubMed: Garcia Segarra 2012 patient - - Belgium - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.248g>a p.Gly83Glu Parent #1 - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PPRD Pat49 PubMed: Garcia Segarra 2012 patient - - Germany - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam2 PubMed: Delague 2005 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Syria - - - - - 4 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam3 PubMed: Delague 2005 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Lebanon - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam4 PubMed: Delague 2005 4-generation family, 2 affected sisters (2F), unaffected heterozygous carrier parents/relatives F yes Lebanon - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam5 PubMed: Delague 2005 5-generation family, 2 affected sisters (2F), unaffected heterozygous carrier parents/relatives F yes Syria - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam6 PubMed: Delague 2005 4-generation family, 4 affected sisters (2F), unaffected heterozygous carrier parents/relatives F yes Syria - - - - - 4 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam7 PubMed: Delague 2005 5-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Palestine Bedouin - - - - 3 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam8 PubMed: Delague 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - - - - - 1 Johan den Dunnen
-?/. - c.248G>A r.(?) p.(Gly83Glu) Parent #1 - likely benign g.112382393G>A g.112061190G>A - - WISP3_000019 variant was initially reported as pathogenic, corrected in 2015; in cis with c.156C>A in 14/15 families PubMed: Dalal 2012, PubMed: Bhavani 2015 - - Germline - 15/79 case families - - - DNA SEQ - - PPRD Pat35 PubMed: Dalal 2012 Brother (not included in the study) F no India - - - - no response to anti inflammatory drugs 1 Gandham SriLakshmi Bhavani
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