NM_000535.7:c.1688G>T

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  2. NM_000535.7:c.1688G>T

HGVS Expressions

  • NG_008466.1:g.27030G>T
  • NM_000535.7:c.1688G>T
  • NP_000526.2:p.Arg563Leu

Associated Genes

PMS1 Homolog 2, Mismatch Repair System Component
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Genomic Location

chr7:5987077

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

63750668

Clinvar

41705

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.44LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B40' from family 17 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.