NM_003482.3:c.16294C>T

  1. Home
  2. NM_003482.3:c.16294C>T

HGVS Expressions

  • NG_027827.1:g.37691C>T
  • NM_003482.3:c.16294C>T
  • NP_003473.3:p.Arg5432Trp
  • NC_000012.12:g.49022634G>A

Associated Genes

Lysine-Specific Methyltransferase 2D
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1565753611

Clinvar

633524

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
147920.3United Arab Emirates1PathogenicKabuki Syndrome 1Saleh et al. 2021 de novo mutation
Download Table

Contributors

  • Pratibha Nair: 12.09.2021

Edit History

  • Pratibha Nair: 14.09.2021
  • Pratibha Nair: 12.09.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.