NM_031433.4:c.428-2A>G

  1. Home
  2. NM_031433.4:c.428-2A>G

HGVS Expressions

  • NG_012235.1:g.6039A>G
  • NM_031433.4:c.428-2A>G
  • NC_000011.10:g.119345635T>C

Associated Genes

Membrane-Type Frizzled-Related Protein
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

986503217

Clinvar

939555

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611040.G.1Lebanon6Likely PathogenicMicrophthalmia, Isolated 5Patel et al. 2018 Three unrelated affected families
Download Table

Contributors

  • Pratibha Nair: 26.09.2023

Edit History

  • Pratibha Nair: 26.09.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.