NM_003458.4:c.10988G>T

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  2. NM_003458.4:c.10988G>T

HGVS Expressions

  • NG_015892.1:g.113658G>T
  • NM_003458.4:c.10988G>T
  • NP_003449.2:p.Gly3663Val
  • NC_000003.12:g.49663146G>T

Associated Genes

Bassoon Presynaptic Cytomatrix Protein
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

185272948

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604020.1Jordan1Uncertain SignificanceIntellectual Deficiency, Autosomal Recessive, UnclassifiedFroukh. 2017
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Contributors

  • Pratibha Nair: 18.09.2023

Edit History

  • Pratibha Nair: 18.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.