NM_031433.4:c.574G>C

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HGVS Expressions

  • NG_012235.1:g.6187G>C
  • NM_031433.4:c.574G>C
  • NP_113621.1:p.Glu192Gln
  • NC_000011.10:g.119345487C>G

Associated Genes

Membrane-Type Frizzled-Related Protein
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205472

Clinvar

191027

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611040.2Saudi Arabia2Likely PathogenicMicrophthalmia, Isolated 5Patel et al. 2018
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Contributors

  • Pratibha Nair: 26.09.2023

Edit History

  • Pratibha Nair: 26.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.