Patient characteristics for the 6 TIEG1-positive patients are summarized in Table
Case 4: HP:0001639, NM_005655.3:c.610G>A (p. Ala204Thr), gnomAD= 2.03e-5, Other= 1.823e-4
6 Matching Annotations
- Oct 2026
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Patient characteristics for the 6 TIEG1-positive patients are summarized in Table
Case 5: HP:0001639, underwent myectomy, father died at age 63 of unknown cause, NM_005655.3:c.646A>G (p. Thr216Ala), gnomAD= 7.21e-5, Euro(NF)= 1.578e-4
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Patient characteristics for the 6 TIEG1-positive patients are summarized in Table
Case 3: HP:0001639, underwent myectomy and ICD, two sons with neg echos, family history - mother died at 84, NM_005655.3:c.409G>A (p. Glu137Lys), gnomAD= 8.152e-6, Euro(Nf)=1.801e-5)
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Patient characteristics for the 6 TIEG1-positive patients are summarized in Table
Case 1: HP:0001639 KLF10 no family history NM_005655.3:c.34G>A (p.Ala 12Thr) gnomAD= 4.108e-6
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Patient characteristics for the 6 TIEG1-positive patients are summarized in Table
Case 2: HP:0001639, parents and siblings had neg echos, no family history, HCM was NOT late onset (diagnosed at 15), myectomy performed, NM_005655.3:c.80T>C (p. Met 27Thr), gnomAD=7.91e-5, euro(Nf)= 1.344e-4
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Patient characteristics for the 6 TIEG1-positive patients are summarized in Table
Case 6: HP:0001639, HP:0001635, HP:0006510, died at 76 of heart failure and COPD, NM_005655.3:c.674G>C (p. Ser225Asp), gnomAD= 1.118e-3 Euro (NF)= (1.16e-2)
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