Full data view for gene TEAD1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_021961.5 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.? r.spl p.(?) Unknown - likely pathogenic g.? g.? TEAD1 Multi-exon (1-8) duplication - DRD4_000002 heterozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 19 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
-?/. - c.39C>T r.(?) p.(Ala13=) Unknown - likely benign g.12785818C>T - TEAD1(NM_021961.5):c.39C>T (p.A13=), TEAD1(NM_021961.6):c.39C>T (p.A13=) - TEAD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39C>T r.(?) p.(Ala13=) Unknown - likely benign g.12785818C>T - TEAD1(NM_021961.5):c.39C>T (p.A13=), TEAD1(NM_021961.6):c.39C>T (p.A13=) - TEAD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59G>A r.(?) p.(Ser20Asn) Unknown - likely benign g.12785838G>A g.12764291G>A TEAD1(NM_021961.6):c.59G>A (p.S20N) - TEAD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59G>A r.(?) p.(Ser20Asn) Unknown - VUS g.12785838G>A - TEAD1(NM_021961.6):c.59G>A (p.S20N) - TEAD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.79A>G r.(?) p.(Ile27Val) Unknown - likely benign g.12785858A>G - - - TEAD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202+36607G>A r.(=) p.(=) Unknown - VUS g.12822588G>A g.12801041G>A - - TEAD1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.267+9A>G r.(=) p.(=) Unknown - likely benign g.12883870A>G - TEAD1(NM_021961.5):c.267+9A>G - TEAD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465+8A>G r.(=) p.(=) Unknown - likely benign g.12901397A>G - TEAD1(NM_021961.5):c.465+8A>G - TEAD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465+13C>T r.(=) p.(=) Unknown - likely benign g.12901402C>T - TEAD1(NM_021961.6):c.465+13C>T - TEAD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.575-7C>G r.(=) p.(=) Unknown - likely benign g.12904541C>G g.12882994C>G TEAD1(NM_021961.5):c.575-7C>G - TEAD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.586G>T r.(?) p.(Ala196Ser) Unknown - likely benign g.12904559G>T g.12883012G>T TEAD1(NM_021961.6):c.586G>T (p.A196S) - TEAD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604T>A r.(?) p.(Ser202Thr) Unknown - likely benign g.12904577T>A - TEAD1(NM_021961.5):c.604T>A (p.S202T) - TEAD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.618G>A r.? p.(Trp206Ter) Unknown - pathogenic (dominant) g.12904591G>A g.12883044G>A - - TEAD1_000011 - PubMed: Schrauwen 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS ? Fam2 PubMed: Schrauwen 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
-/. - c.675C>T r.(?) p.(Leu225=) Unknown - benign g.12904648C>T g.12883101C>T TEAD1(NM_021961.5):c.675C>T (p.L225=), TEAD1(NM_021961.6):c.675C>T (p.L225=) - TEAD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675C>T r.(?) p.(Leu225=) Unknown - likely benign g.12904648C>T g.12883101C>T TEAD1(NM_021961.5):c.675C>T (p.L225=), TEAD1(NM_021961.6):c.675C>T (p.L225=) - TEAD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.704A>G r.(?) p.(Asn235Ser) Unknown - likely benign g.12923491A>G - TEAD1(NM_021961.5):c.704A>G (p.N235S) - TEAD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737A>G r.(?) p.(Asn246Ser) Unknown - likely benign g.12923524A>G g.12901977A>G TEAD1(NM_021961.5):c.737A>G (p.N246S) - TEAD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.873+3_873+6del r.spl? p.? Unknown - likely benign g.12923663_12923666del - TEAD1(NM_021961.5):c.873+3_873+6delGAGT - TEAD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953T>C r.(?) p.(Met318Thr) Unknown - likely benign g.12946538T>C g.12924991T>C TEAD1(NM_021961.6):c.953T>C (p.M318T) - TEAD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1015-16C>T r.(=) p.(=) Unknown - benign g.12951705C>T g.12930158C>T TEAD1(NM_021961.6):c.1015-16C>T - TEAD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1015-5C>T r.spl? p.? Unknown - likely benign g.12951716C>T g.12930169C>T TEAD1(NM_021961.5):c.1015-5C>T - TEAD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1063C>T r.? p.? Unknown - VUS g.12951769C>T - c.1063C>T - TEAD1_000013 - PubMed: Avela 2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 present in unaffected mother - - Finland Finnish - - - - 1 LOVD
?/. - c.1063C>T r.(?) p.(Arg355Cys) Maternal (confirmed) - VUS g.12951769C>T g.12930222C>T TEAD1 c.1063C>T p., Arg355Cys) - TEAD1_000013 heterozygous (VUS), present in unaffected mother PubMed: Avela 2019 - - Germline yes gnomAD 0% in Finnish, all 0.00071%; not in HGMD - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 31 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+?/. 1 c.1261T>A r.(?) p.(Tyr421Asn) Unknown - likely pathogenic g.12958749T>A g.12937202T>A TEAD1 c.1261T>A, p.Tyr421Asn - TEAD1_000019 heterozygous PubMed: Grubisa 2021 - - Germline ? - - - - DNA SEQ - - SCRA 1 PubMed: Grubisa 2021 Serbian family, father; more detailed clinical findings in Milenkovic et al.,2005 M - Bosnia and Herzegovina Serbian - - - - 1 LOVD
+?/. 1 c.1261T>A r.(?) p.(Tyr421Asn) Paternal (confirmed) - likely pathogenic g.12958749T>A g.12937202T>A TEAD1 c.1261T>A, p.Tyr421Asn - TEAD1_000019 heterozygous PubMed: Grubisa 2021 - - Germline ? - - - - DNA SEQ - - SCRA 2 PubMed: Grubisa 2021 Serbian family, daughter; more detailed clinical findings in Milenkovic et al.,2006 F - Bosnia and Herzegovina Serbian - - - - 1 LOVD
+?/. 1 c.1261T>A r.(?) p.(Tyr421Asn) Paternal (confirmed) - likely pathogenic g.12958749T>A g.12937202T>A TEAD1 c.1261T>A, p.Tyr421Asn - TEAD1_000019 heterozygous PubMed: Grubisa 2021 - - Germline ? - - - - DNA SEQ - - SCRA 3 PubMed: Grubisa 2021 Serbian family, son; more detailed clinical findings in Milenkovic et al.,2007 M - Bosnia and Herzegovina Serbian - - - - 1 LOVD
+/. - c.1261T>C r.(?) p.(Tyr421His) Parent #1 - pathogenic (dominant) g.12958749T>C g.12937202T>C - - TEAD1_000012 - PubMed: Fossdale 2004 - - Germline yes - - - - DNA SEQ - - SCRA family PubMed: Fossdale 2004 81 patients from 10 related families F;M - Iceland - - - - - 81 Johan den Dunnen
+?/. 1 c.1261T>C r.(?) p.(Tyr421His) Paternal (inferred) - likely pathogenic g.12958749T>C g.12937202T>C TEAD1 Y421H - TEAD1_000012 heterozygous PubMed: Jonasson 2007 - - Germline yes - - - - DNA ? - retrospective study, phenotyping SCRA ? PubMed: Jonasson 2007 - F - - Icelandic 82y - - - 1 LOVD
+/. 1 c.1261T>C r.(?) p.(Tyr421His) Maternal (inferred) - pathogenic g.12958749T>C g.12937202T>C TEAD1 T1261C - TEAD1_000012 heterozygous; no protein annotation PubMed: Tosi 2009 - - Germline ? - - - - DNA ? - - SCRA Case 2 PubMed: Tosi 2009 proband's mother, the only family member to be screened for mutation - segregation unknown; Case 1 (daughter) and Case 3 (mother) not genetically tested F - - - - - - - 1 LOVD
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