NM_014908.4:c.1450A>G

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  2. NM_014908.4:c.1450A>G

HGVS Expressions

  • NG_017009.1:g.6880A>G
  • NM_014908.4:c.1450A>G
  • NP_055723.1:p.Ile484Val

Associated Genes

Dolichol Kinase
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Genomic Location

chr9:128945854

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

147630977

Clinvar

226616

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610768.1Lebanon2Likely PathogenicCongenital Disorder of Glycosylation, Type ImJalkh et al. 2019
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Contributors

  • Pratibha Nair: 25.11.2020

Edit History

  • Pratibha Nair: 25.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.