NM_007194.4:c.470T>C

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  2. NM_007194.4:c.470T>C

HGVS Expressions

  • NG_008150.2:g.21768T>C
  • NM_007194.4:c.470T>C
  • NP_009125.1:p.Ile157Thr

Associated Genes

Checkpoint Kinase 2
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Genomic Location

chr22:28725099

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Risk factor

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

17879961

Clinvar

5591

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.56LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'D4' from family 27 in the publi...
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Contributors

  • Asha Deepthi: 29.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 29.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.