NM_005432.4:c.722C>T

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  2. NM_005432.4:c.722C>T

HGVS Expressions

  • NG_011516.1:g.21071C>T
  • NM_005432.4:c.722C>T
  • NP_005423.1:p.Thr241Met

Associated Genes

X-Ray Repair, Complementing Defective, in Chinese Hamster, 3
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Genomic Location

chr14:103699416

Clinvar Clinical Significance

Risk factor

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

861539

Clinvar

8944

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.26LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B19' from family 1 in the publi...
114480.31LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B25' from family 6 in the publi...
114480.32LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B26' from family 7 in the publi...
114480.33LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B27' from family 8 in the publi...
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Contributors

  • Asha Deepthi: 06.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 06.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.