NM_001290787.1:c.1679+7G>T

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  2. NM_001290787.1:c.1679+7G>T

HGVS Expressions

  • NG_034065.1:g.10010G>T
  • NM_001290787.1:c.1679+7G>T
  • NP_001277716.1:p.?
  • NC_000002.12:g.232482850C>A

Associated Genes

Endothelin-Converting Enzyme-Like 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777131

Clinvar

100652

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615065.1.1Morocco2PathogenicArthrogryposis, Distal, Type 5DDieterich et al. 2013
615065.1.2Morocco2PathogenicArthrogryposis, Distal, Type 5DDieterich et al. 2013 Sibling of 615065.1.1
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Contributors

  • Pratibha Nair: 05.07.2021

Edit History

  • Pratibha Nair: 05.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.