NM_005529.7:c.2747G>A

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HGVS Expressions

  • NG_016740.1:g.65667G>A
  • NM_005529.7:c.2747G>A
  • NP_005520.4:p.Arg916Gln
  • NC_000001.11:g.21876591C>T

Associated Genes

Heparan Sulfate Proteoglycan of Basement Membrane
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

369313904

Clinvar

842464

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
142461.2Saudi Arabia2Uncertain SignificanceMonies et al. 2017
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Contributors

  • Asha Deepthi: 11.11.2024

Edit History

  • Asha Deepthi: 11.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.