NM_000123.4:c.542A>G

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HGVS Expressions

  • NG_007146.1:g.17465A>G
  • NM_000123.4:c.542A>G
  • NP_000114.2:p.His181Arg
  • NC_000013.11:g.102858288A>G

Associated Genes

Excision-Repair, Complementing Defective, in Chinese Hamster, 5
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

4150295

Clinvar

310914

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.42LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B38' from family 15 in the publ...
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Contributors

  • Asha Deepthi: 26.01.2021

Edit History

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