NM_170707.4:c.1867A>G

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  2. NM_170707.4:c.1867A>G

HGVS Expressions

  • NG_008692.2:g.61084A>G
  • NM_170707.4:c.1867A>G
  • NP_733821.1:p.Thr623Ala

Associated Genes

Lamin A/C
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Genomic Location

chr1:156138656

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

757888891

Clinvar

289127

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
150330.1Lebanon2PathogenicJalkh et al. 2019 Charcot-Marie-Tooth disease, type 2B1 or...
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Contributors

  • Pratibha Nair: 18.10.2020

Edit History

  • Pratibha Nair: 18.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.