NM_001849.4:c.2611G>A

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  2. NM_001849.4:c.2611G>A

HGVS Expressions

  • NG_008675.1:g.38985G>A
  • NM_001849.4:c.2611G>A
  • NP_001840.3:p.Asp871Asn

Associated Genes

Collagen, Type VI, Alpha-2
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Genomic Location

chr21:46132103

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

387906610

Clinvar

29644

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
254090.1Lebanon2PathogenicUllrich Congenital Muscular Dystrophy 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 04.11.2020

Edit History

  • Pratibha Nair: 04.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.