Full data view for gene TECTA


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_005422.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 9 c.2657A>G r.(?) p.(Asn886Ser) Unknown - likely pathogenic g.121000636A>G g.121129927A>G - - TECTA_000045 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+?/. 9 c.2657A>G r.(?) p.(Asn886Ser) Unknown - likely pathogenic g.121000636A>G g.121129927A>G - - TECTA_000045 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. - c.2657A>G r.(?) p.(Asn886Ser) Unknown - VUS g.121000636A>G g.121129927A>G - - TECTA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 9 c.2657A>G r.(?) p.(Asn886Ser) Parent #1 ACMG VUS g.121000636A>G g.121129927A>G - - TECTA_000045 heterozygous, {MSV3dO75443:p.Asn886Ser} PubMed: Hildebrand et al., 2011 - rs146175803 Germline - 0/208 controls +BtsI;+TspRI;+PstI;+SfcI;-BsrDI; - - DNA DHPLC, SEQ - - DFNA1 - PubMed: Hildebrand et al., 2011 proband M - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+?/? 9 c.2657A>G r.(?) p.(Asn886Ser) Paternal (confirmed) ACMG VUS g.121000636A>G g.121129927A>G - - TECTA_000045 heterozygous, {MSV3dO75443:p.Asn886Ser} PubMed: Baux, Vaché et al., 2017 - rs146175803 Germline - - +BtsI;+TspRI;+PstI;+SfcI;-BsrDI; - - DNA SEQ, SEQ-NG-S - - DFNB S1539 PubMed: Baux 2017 proband F - France - - - - - 1 Anne-Françoise Roux
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