Full data view for gene SYN3

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

53 entries on 1 page. Showing entries 1 - 53.
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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+5564T>A r.(=) p.(=) Unknown - VUS g.33255338A>T - - - SYN3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Buckinghamshire, England ? - - English - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Yorkshire, England ? - - English - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Cambria, England ? - - English - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Canada ? - - Canadian - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: South Africa ? - - South African - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Oregon, United States ? - - American - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 S181C - SYN3_000016 - PubMed: Langton 2000 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Langton 2000 cell line investigation - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 1 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 2 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 3 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 4 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 5 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 6 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 7 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 8 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 9 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 10 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 11 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 12 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 13 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 14 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 15 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 16 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 17 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 18 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 19 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 20 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 21 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 22 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 23 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 24 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 25 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 26 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 27 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 28 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 29 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 30 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 31 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 32 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 33 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 34 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 35 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 36 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 37 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 38 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 39 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 40 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 41 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 42 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 c.610A>T - SYN3_000016 heterozygous PubMed: Menassa 2017 - - Germline yes - - - - DNA ? - - retinal disease ? PubMed: Menassa 2017 - M - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 c.610A>T, p.(Ser204Cys) - SYN3_000016 excess accumulation of mutant TIMP3, rather than an absence or deficiency of functional TIMP3, drives extracellular matrix and angiogenesis-related changes in Sorsby fundus dystrophy PubMed: Hongisto 2020 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Hongisto 2020 - - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Maternal (inferred) - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 610A>T; p.(Ser204Cys) - SYN3_000016 - PubMed: Spaide 2021 - - Germline yes - - - - DNA ? - - retinal disease ? PubMed: Spaide 2021 - F - - English, Scottish - - - - 1 LOVD
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