NM_004415.3:c.1865T>C

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  2. NM_004415.3:c.1865T>C

HGVS Expressions

  • NG_008803.1:g.34910T>C
  • NM_004415.3:c.1865T>C
  • NP_004406.2:p.Leu622Pro

Associated Genes

Desmoplakin
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Genomic Location

chr6:7571546

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1554107098

Clinvar

372127

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615821.1.1Lebanon1PathogenicCardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth AgenesisBitar et al, 2016; Tayeh et al, 2019
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Contributors

  • Sayeeda Hana: 15.07.2019

Edit History

  • Sayeeda Hana: 15.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.