NM_002640.4:c.947del

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HGVS Expressions

  • NG_052876.1:g.22073del
  • NM_002640.4:c.947del
  • NP_942130.1:p.Lys316fs

Associated Genes

SERPIN Family B, Member 8
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Genomic Location

chr18:63987100

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

762923677

Clinvar

254198

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617115.1.1Tunisia2PathogenicPeeling Skin Syndrome 5Pigors et al. 2016
617115.1.2Tunisia2PathogenicPeeling Skin Syndrome 5Pigors et al. 2016 Sibling of 617115.1.1
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Contributors

  • Pratibha Nair: 08.06.2020

Edit History

  • Sayeeda Hana: 04.10.2020
  • Pratibha Nair: 08.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.