NM_024312.5:c.3653del

  1. Home
  2. NM_024312.5:c.3653del

HGVS Expressions

  • NG_021243.1:g.86727del
  • NM_024312.5:c.3653del
  • NP_077288.2:p.Thr1218AsnfsTer2
  • NC_000012.12:g.101749141del

Associated Genes

N-Acetylglucosamine-1-Phosphotransferase, Alpha/Beta Subunits
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1252037

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
252500.4Saudi Arabia2NAPathogenicMucolipidosis II Alpha/BetaMaddirevula et al. 2018
Download Table

Contributors

  • Asha Deepthi: 06.12.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Asha Deepthi: 06.12.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.