NM_005041.5:c.1153C>T

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HGVS Expressions

  • NG_009615.1:g.9208C>T
  • NM_005041.5:c.1153C>T
  • NP_005032.2:p.Arg385Trp
  • NC_000010.11:g.70598568G>A

Associated Genes

Perforin 1
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

551046401

Clinvar

536228

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.11Lebanon1Uncertain SignificanceUmar et al, 2020
249100.18Lebanon1Uncertain SignificanceUmar et al, 2020
249100.42Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 03.02.2021

Edit History

  • Sayeeda Hana: 17.02.2021
  • Sayeeda Hana: 15.02.2021
  • Sayeeda Hana: 14.02.2021
  • Sayeeda Hana: 03.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.