Full data view for gene SYN3

Information The variants shown are described using the NM_001135774.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-4 PubMed: Felbor 1997 Finnish family, child 1 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-6 PubMed: Felbor 1997 Finnish family, child 2 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-7 PubMed: Felbor 1997 Finnish family, child 3 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-8 PubMed: Felbor 1997 Finnish family, child 4 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-10 PubMed: Felbor 1997 Finnish family, child 5 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-13 PubMed: Felbor 1997 Finnish family, child 6 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-14 PubMed: Felbor 1997 Finnish family, child 7 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-16 PubMed: Felbor 1997 Finnish family, child 8 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-2 PubMed: Felbor 1997 Finnish family, grandchild 2 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-1 PubMed: Felbor 1997 Finnish family, grandchild 1 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-3 PubMed: Felbor 1997 Finnish family, grandchild 3 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-4 PubMed: Felbor 1997 Finnish family, grandchild 4 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-5 PubMed: Felbor 1997 Finnish family, grandchild 5 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-7 PubMed: Felbor 1997 Finnish family, grandchild 6 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Unknown - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 G166C - SYN3_000026 - PubMed: Langton 2000 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Langton 2000 cell line investigation - - - - - - - - 1 LOVD
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