NM_001017402.1:c.1460_1461insA

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  2. NM_001017402.1:c.1460_1461insA

HGVS Expressions

  • NG_007116.1:g.30068_30069insA
  • NM_001017402.1:c.1460_1461insA
  • NP_001017402.1:p.Asn487Lysfs*49

Associated Genes

Laminin, Beta-3
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Genomic Location

chr1:209627407-209627408

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226650.1.1Lebanon2PathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateFarooq et al, 2013 Proband
226650.1.2Lebanon2PathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateFarooq et al, 2013 Sister of 226650.1.1
226650.1.3Lebanon2PathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateFarooq et al, 2013 Sister of 226650.1.1
226650.1.4Lebanon1PathogenicFarooq et al, 2013 Father of 226650.1.1
226650.1.5Lebanon1PathogenicFarooq et al, 2013 Mother of 226650.1.1
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Contributors

  • Sayeeda Hana: 14.05.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 14.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.