NM_000124.4:c.2800C>A

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HGVS Expressions

  • NG_009442.1:g.71164C>A
  • NM_000124.4:c.2800C>A
  • NP_000115.1:p.Pro934Thr

Associated Genes

Excision Repair Cross-Complementing, Group 6
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Genomic Location

chr10:49472938

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1554875536

Clinvar

496904

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.43LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B39' from family 16 in the publ...
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Contributors

  • Asha Deepthi: 24.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 24.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.