NM_000094.3:c.6082G>A

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  2. NM_000094.3:c.6082G>A

HGVS Expressions

  • NG_007065.1:g.24816G>A
  • NM_000094.3:c.6082G>A
  • NP_000085.1:p.Gly2028Arg

Associated Genes

Collagen, Type VII, Alpha-1
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Genomic Location

chr3:48575437

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

762162799

Clinvar

379476

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
132000.1Lebanon1PathogenicEpidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of NailsNair et al. 2018 Father also affected
616004.1Lebanon1Likely PathogenicDysfibrinogenemia, CongenitalNair et al. 2018
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Contributors

  • Pratibha Nair: 15.04.2020

Edit History

  • Pratibha Nair: 15.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.