NM_001303416.2:c.508C>T

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HGVS Expressions

  • NG_007454.1:g.9718C>T
  • NM_001303416.2:c.508C>T
  • NP_001290347.1:p.Arg170Ter

Associated Genes

Excision Repair, Complementing Defective in, Chinese Hamster, 3
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Genomic Location

chr2:127289459

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

980899348

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.28LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B22' from family 3 in the publi...
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Contributors

  • Asha Deepthi: 08.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 08.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.