NM_000248.3:c.710+5G>T

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HGVS Expressions

  • NG_011631.1:g.222054G>T
  • NM_000248.3:c.710+5G>T
  • NC_000003.12:g.69956535G>T

Associated Genes

Microphthalmia-Associated Transcription Factor
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Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
193510.2Lebanon1Waardenburg Syndrome, Type 2AHaddad et al., 2011
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Contributors

  • Asha Deepthi: 28.11.2019

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 09.06.2021
  • Asha Deepthi: 28.11.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.