NM_015884.3:c.1499G>A

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  2. NM_015884.3:c.1499G>A

HGVS Expressions

  • NG_012797.1:g.48057G>A
  • NM_015884.3:c.1499G>A
  • NP_056968.1:p.Gly500Asp
  • NC_000023.11:g.21882594G>A

Associated Genes

Membrane-Bound Transcription Factor Protease, Site 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
308205.2.1Syria1Likely PathogenicIFAP Syndrome with or without Bresheck SyndromeBornholdt et al. 2013
308205.2.2Syria1Likely PathogenicIFAP Syndrome with or without Bresheck SyndromeBornholdt et al. 2013 Sibling of 308205.2.1
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Contributors

  • Pratibha Nair: 27.06.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 27.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.