NM_000489.6:c.3569G>C

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HGVS Expressions

  • NG_008838.3:g.109583G>C
  • NM_000489.6:c.3569G>C
  • NP_000480.3:p.Arg1190Thr

Associated Genes

ATR-X Gene
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Genomic Location

chrX:77681687

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1557137075

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
309580.2Lebanon1PathogenicMental Retardation-Hypotonic Facies Syndrome, X-Linked, 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 08.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 08.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.