NM_006772.3:c.739C>T

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HGVS Expressions

  • NG_016137.2:g.20521C>T
  • NM_006772.3:c.739C>T
  • NP_006763.2:p.Gln247Ter
  • NC_000006.12:g.33435590C>T

Associated Genes

Synaptic Ras-GTPase-Activating Protein 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1554120978

Clinvar

496672

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612621.2Saudi Arabia1Likely PathogenicIntellectual Developmental Disorder, Autosomal Dominant 5Monies et al. 2017
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Contributors

  • Asha Deepthi: 02.11.2024

Edit History

  • Asha Deepthi: 02.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.