NM_000494.4:c.3676C>T

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HGVS Expressions

  • NG_007069.1:g.56170C>T
  • NM_000494.4:c.3676C>T
  • NP_000485.3:p.Arg1226Ter

Associated Genes

Collagen, Type XVII, Alpha-1
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Genomic Location

chr10:104034711

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121912769

Clinvar

17645

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226650.G.4SudanPathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateNakano et al. 2002 Unknown number of patients from 'family ...
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Contributors

    Edit History

    • Asha Deepthi: 27.08.2020
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    © CAGS 2024. All rights reserved.