NM_000535.7:c.219T>A

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  2. NM_000535.7:c.219T>A

HGVS Expressions

  • NG_008466.1:g.10104T>A
  • NM_000535.7:c.219T>A
  • NP_000526.2:p.Cys73Ter

Associated Genes

PMS1 Homolog 2, Mismatch Repair System Component
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Genomic Location

chr7:6004003

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121434630

Clinvar

9249

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276300.1.1Syria2PathogenicMismatch Repair Cancer Syndrome 1Al-Gazali and Ali, 2010
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Contributors

  • Sayeeda Hana: 10.03.2020

Edit History

  • Sayeeda Hana: 11.03.2020
  • Sayeeda Hana: 10.03.2020
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© CAGS 2024. All rights reserved.