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.

48 entries on 1 page. Showing entries 1 - 48.
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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.156C>A r.(?) p.(Cys52Ter) Unknown - pathogenic g.112382301C>A g.112061098C>A CCN6(NM_198239.2):c.156C>A (p.C52*) - WISP3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.156C>A r.(?) p.(Cys52*) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 no variant 2nd allele identified PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam2;Pat37 PubMed: Hurvitz 1999, {PMID:Garcia Segarra 2012:22791401 family, unaffected heterozygous carrier parents - no Italy - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys145Tyr) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam3 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - no France - - - - - 1 Johan den Dunnen
+/. 3 c.156C>A r.(?) p.(Cys52*) Parent #2 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline yes - - - - DNA SEQ - - PPRD Fam3 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam5 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam11 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam12 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam20 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam22 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam24 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam25 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam32 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam34 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam38 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam51 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat22 PubMed: Dalal 2012 - M no India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat32 PubMed: Dalal 2012 - M no India - - - - no response to anti inflammatory drugs 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam3Pat3 PubMed: Dalal 2012 Brother of P4 M yes India - - - - - 2 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam3Pat4 PubMed: Dalal 2012 Brother of P3 M yes India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat2 PubMed: Garcia Segarra 2012 patient - - - - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat3 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Italy - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat4 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat5 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat6 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat7 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat8 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat9 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat10 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat11 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat12 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat13 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat14 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat15 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat16 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat17 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat18 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat19 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat38 PubMed: Garcia Segarra 2012 patient - - Italy - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.156c>a p.Cys52Ter Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PPRD Pat48 PubMed: Garcia Segarra 2012 patient - - Belgium - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.156c>a p.Cys52Ter Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PPRD Pat49 PubMed: Garcia Segarra 2012 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - 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.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - 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.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - 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.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - 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.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - 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.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - 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.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - 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.156C>A r.(?) p.(Cys52Ter) Unknown - pathogenic g.112382301C>A - CCN6(NM_198239.2):c.156C>A (p.C52*) - WISP3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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