NM_005041.5:c.3G>A

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HGVS Expressions

  • NG_009615.1:g.6876G>A
  • NM_005041.5:c.3G>A
  • NP_005032.2:p.Met1?
  • NC_000010.11:g.70600900C>T

Associated Genes

Perforin 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

758728749

Clinvar

1301336

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.59LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'D7' from family 30 in the publi...
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Contributors

  • Asha Deepthi: 29.09.2020

Edit History

  • Pratibha Nair: 21.11.2022
  • 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.