NM_000445.5:c.9085C>T

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  2. NM_000445.5:c.9085C>T

HGVS Expressions

  • NG_012492.1:g.60929C>T
  • NM_000445.5:c.9085C>T
  • NP_958782.1:p.Arg3139Ter

Associated Genes

Plectin
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Genomic Location

chr8:143920817

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137853161

Clinvar

8266

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612138.2.1Saudi Arabia2PathogenicEpidermolysis Bullosa Simplex with Pyloric AtresiaPfendner and Uitto. 2005 Neonatal death of sibling
612138.2.2Saudi Arabia1PathogenicPfendner and Uitto. 2005 Mother of 612138.2.1
612138.2.3Saudi Arabia1PathogenicPfendner and Uitto. 2005 Father of 612138.2.1
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Contributors

  • Pratibha Nair: 20.07.2020

Edit History

  • Sayeeda Hana: 16.09.2020
  • Pratibha Nair: 20.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.