NM_052859.3:c.902A>G

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  2. NM_052859.3:c.902A>G

HGVS Expressions

  • NG_009203.1:g.29727A>G
  • NM_052859.3:c.902A>G
  • NP_443091.1:p.Tyr301Cys
  • NC_000003.12:g.53105728T>C

Associated Genes

RFT1, S. Cerevisiae, Homolog of
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

913477149

Clinvar

495320

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612015.1Lebanon2Likely PathogenicCongenital Disorder of Glycosylation, Type InBastaki et al. 2018
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Contributors

  • Sayeeda Hana: 31.03.2021

Edit History

  • Sayeeda Hana: 19.05.2021
  • Sayeeda Hana: 31.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.