NM_004753.7:c.328G>A

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  2. NM_004753.7:c.328G>A

HGVS Expressions

  • NM_004753.7:c.328G>A
  • NP_004744.2:p.Val110Ile
  • NC_000001.11:g.12580534C>T

Associated Genes

Short-Chain Dehydrogenase/Reductase Family, Member 3
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

200750969

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612830.1Jordan2Uncertain SignificanceIntellectual Deficiency, Autosomal Recessive, Unclassified Has three similarly affected siblings, o...
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Contributors

  • Pratibha Nair: 20.09.2023

Edit History

  • Pratibha Nair: 20.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.