NM_000248.3:c.33+5G>C

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HGVS Expressions

  • NG_011631.1:g.202279G>C
  • NM_000248.3:c.33+5G>C

Associated Genes

Microphthalmia-Associated Transcription Factor
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Genomic Location

chr3:69936760

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1236436555

Clinvar

545639

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
193510.1Syria1Likely PathogenicWaardenburg Syndrome, Type 2AHaddad et al., 2011
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Contributors

  • Asha Deepthi: 28.11.2019

Edit History

  • Asha Deepthi: 28.11.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.