NM_001384474.1:c.4519G>A

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HGVS Expressions

  • NG_016646.2:g.132846G>A
  • NM_001384474.1:c.4519G>A
  • NP_001371403.1:p.Glu1507Lys
  • NC_000018.10:g.46529188C>T

Associated Genes

Lipoxygenase Homology Domain-Containing 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

752123459

Clinvar

891650

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600970.2United Arab Emirates1Uncertain SignificanceTlili et al. 2024 Patient has heterozygous variants in MYO...
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Contributors

  • Asha Deepthi: 03.09.2024

Edit History

  • Asha Deepthi: 03.09.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.