NM_005591.4:c.630G>C

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  2. NM_005591.4:c.630G>C

HGVS Expressions

  • NG_007261.1:g.22557G>C
  • NM_005591.4:c.630G>C
  • NP_005582.1:p.Trp210Cys
  • NC_000011.10:g.94476318C>G

Associated Genes

MRE11 Homolog, Double Strand Break Repair Nuclease
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

137852763

Clinvar

8786

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604391.1Saudi Arabia2Likely PathogenicAtaxia-Telangiectasia-Like Disorder 1Monies et al. 2017 Patient suspected of neuronal ceroid lip...
604391.G.1Saudi Arabia20NAPathogenicAtaxia-Telangiectasia-Like Disorder 1Fernet et al. 2005 10 patients (3 males; 7 females) from th...
604391.G.2Saudi Arabia20.005Alsbeih et al. 2008 Two out of 428 phenotypically normal ind...
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Contributors

  • Asha Deepthi: 27.03.2023

Edit History

  • Asha Deepthi: 22.10.2024
  • Asha Deepthi: 27.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.