NM_017653.6:c.302G>A

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HGVS Expressions

  • NG_009239.2:g.87048G>A
  • NM_017653.6:c.302G>A
  • NP_060123.3:p.Trp101Ter
  • NC_000018.10:g.49378686C>T

Associated Genes

Dymeclin
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1468696571

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
223801.14Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
223801.15Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
223801.16Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 15.11.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Asha Deepthi: 15.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.