NM_002547.3:c.4G>C

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  2. NM_002547.3:c.4G>C

HGVS Expressions

  • NG_008960.1:g.5441G>C
  • NM_002547.3:c.4G>C
  • NP_002538.1:p.Gly2Arg

Associated Genes

Oligophrenin 1
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Genomic Location

chrX:68433017

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1200813419

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300486.1Lebanon1Likely PathogenicMental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial AppearanceNair et al. 2018
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Contributors

  • Pratibha Nair: 23.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 23.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.