NM_003401.5:c.401T>C

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HGVS Expressions

  • NG_047086.1:g.123447T>C
  • NM_003401.5:c.401T>C
  • NP_003392.1:p.Ile134Thr
  • NC_000005.10:g.83195855T>C

Associated Genes

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

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

28360135

Clinvar

1300523

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.38LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B34' from family 11 in the publ...
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Contributors

  • Asha Deepthi: 22.09.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 22.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.