NM_001937.5:c.446A>G

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  2. NM_001937.5:c.446A>G

HGVS Expressions

  • NM_001937.5:c.446A>G
  • NP_001928.2:p.Tyr149Cy

Associated Genes

Dermatopontin
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Genomic Location

chr1:168701110

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

777651623

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601631.1.1Lebanon1Likely PathogenicGlaucoma 3, Primary Congenital, AKhalil et al, 2017
601631.1.2Lebanon1Likely PathogenicGlaucoma 3, Primary Congenital, AKhalil et al, 2017 Sibling of 601631.1.1
601631.1.3Lebanon1Likely PathogenicGlaucoma 3, Primary Congenital, AKhalil et al, 2017 Sibling of 601631.1.1
601631.1.4Lebanon1Likely PathogenicKhalil et al, 2017 Father of 601631.1.1
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Contributors

  • Pratibha Nair: 30.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 30.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.