NM_000093.5:c.2654T>A

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  2. NM_000093.5:c.2654T>A

HGVS Expressions

  • NG_008030.1:g.152357T>A
  • NM_000093.5:c.2654T>A
  • NP_000084.3:p.Ile885Asn

Associated Genes

Collagen, Type V, Alpha-1
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Genomic Location

chr9:134789162

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
130000.1Lebanon1Likely PathogenicEhlers-Danlos Syndrome, classic type, 1 Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 09.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 09.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.