NM_000228.3:c.3247C>T

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HGVS Expressions

  • NG_007116.1:g.40870C>T
  • NM_000228.3:c.3247C>T
  • NP_000219.2:p.Gln1083Ter
  • NC_000001.11:g.209616606G>A

Associated Genes

Laminin, Beta-3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1301693

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226650.2Palestine; United Arab Em...1Likely PathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateNakano et al. 2002 Compound heterozygous patient of Palesti...
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Contributors

    Edit History

    • Sami Bizzari: 26.12.2022
    • Pratibha Nair: 10.11.2022
    • Pratibha Nair: 21.09.2022
    • Pratibha Nair: 23.08.2022
    • Asha Deepthi: 27.08.2020
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    © CAGS 2024. All rights reserved.