NM_000372.4:c.1207del

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  2. NM_000372.4:c.1207del

HGVS Expressions

  • NG_008748.1:g.111924del
  • NM_000372.4:c.1207del
  • NP_000363.1:p.Arg403GlyfsTer82
  • NC_000011.10:g.89284795del

Associated Genes

Tyrosinase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203100.G.1LebanonLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BZahed et al. 2005 Group of 14 patients with both homozygou...
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Contributors

  • Sayeeda Hana: 06.02.2020

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 09.06.2021
  • Sayeeda Hana: 09.02.2020
  • Sayeeda Hana: 06.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.