NM_003401.5:c.127T>C

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  2. NM_003401.5:c.127T>C

HGVS Expressions

  • NG_047086.1:g.32638T>C
  • NM_003401.5:c.127T>C
  • NP_003392.1:p.Trp43Arg
  • NC_000005.10:g.83105046T>C

Associated Genes

X-Ray Repair, Complementing Defective, in Chinese Hamster, 4
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587779351

Clinvar

127246

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616541.1Saudi Arabia2PathogenicShort Stature, Microcephaly, And Endocrine DysfunctionAlazami et al. 2015; Shaheen et al. 2019; Shaheen et al. 2014
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Contributors

  • Sayeeda Hana: 22.01.2022

Edit History

  • Sayeeda Hana: 22.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.