NM_000243.2:c.726C>G

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  2. NM_000243.2:c.726C>G

HGVS Expressions

  • NG_007871.1:g.7286C>G
  • NM_000243.2:c.726C>G
  • NP_000234.1:p.Ser242Arg
  • NC_000016.10:g.3254342G>C

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

104895127

Clinvar

97541

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608068.1Lebanon1Likely PathogenicMasters et al. 2016
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Contributors

  • Pratibha Nair: 05.07.2021

Edit History

  • Pratibha Nair: 28.07.2021
  • Pratibha Nair: 05.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.