NM_032793.5:c.476C>T

  1. Home
  2. NM_032793.5:c.476C>T

HGVS Expressions

  • NG_053084.1:g.15222C>T
  • NM_032793.5:c.476C>T
  • NP_116182.2:p.Thr159Met
  • NC_000001.11:g.39965333C>T

Associated Genes

Major Facilitator Superfamily Domain-Containing Protein 2A
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1057517688

Clinvar

372260

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616486.1Saudi Arabia2PathogenicNeurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging AbnormalitiesShaheen et al. 2019
Download Table

Contributors

  • Sayeeda Hana: 20.11.2021

Edit History

  • Sayeeda Hana: 20.11.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.