NM_000372.5:c.1037-1G>A

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HGVS Expressions

  • NG_008748.1:g.54951G>A
  • NM_000372.5:c.1037-1G>A

Associated Genes

Tyrosinase
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Genomic Location

chr11:89227822

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

61754382

Clinvar

99526

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203100.1Lebanon; Saudi Arabia1PathogenicOculocutaneous Albinism, Type IAJalkh et al. 2019 Compound heterozygous
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Contributors

  • Pratibha Nair: 22.10.2020

Edit History

  • Pratibha Nair: 22.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.