NM_001012759.2:c.873G>A

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HGVS Expressions

  • NG_042229.1:g.76774C>T
  • NM_001012759.2:c.873G>A
  • NP_001012777.1:p.Thr291=
  • NC_000016.10:g.88713447G>A

Associated Genes

Cytosolic Thiouridylase, Subunit 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

769481947

Clinvar

585016

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618142.1.1United Arab Emirates2PathogenicMicrocephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia SyndromeShaheen et al. 2016 The proband had an older sister with mic...
618142.1.2United Arab Emirates2PathogenicMicrocephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia SyndromeShaheen et al. 2016 Double first cousin of 618142.1.1
618142.2.1Saudi Arabia2PathogenicMicrocephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia SyndromeShaheen et al. 2019
618142.2.2Saudi Arabia2PathogenicMicrocephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia SyndromeShaheen et al. 2019 Relative of 618142.2.1
618142.3Saudi Arabia2PathogenicMicrocephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia SyndromeShaheen et al. 2019
618142.4Saudi Arabia2PathogenicMicrocephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia SyndromeShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 07.07.2021

Edit History

  • Sayeeda Hana: 08.02.2022
  • Sayeeda Hana: 07.07.2021
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© CAGS 2024. All rights reserved.