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CHDGene:ENSG00000123066

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THRAP2

Non syndromic associated CHDs overview

Complete transposition of great arteries (IVS) (3, 100%)

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External references for THRAP2

Known phenotypes for THRAP2

Non-syndromic

  
 Complete transposition of great arteries (IVS) edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:14638541 (population study with screening of similar CHD patients and normal controls modify)
  • Inheritence: Dextro-looped transposition of the great arteries (OMIM:608808)
  • Incidence: 3/97 isolated D-TGA
  • Comments:
  • Studies: (1)
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Syndromic

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Protein interaction partners


Patients reports for THRAP2

Translocations

Region References OMIM Comments

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Mutations in THRAP2

Mutation (DNA) Mutation (peptide) CHD Reference Other features Inheritence Additional info.

Representation of protein

Heart expression domain of THRAP2

No specified expression domain for THRAP2

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Associated CHDs found by automated text mining

AGeneApart Method

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