NM_000489.6:c.2617G>C

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  2. NM_000489.6:c.2617G>C

HGVS Expressions

  • NG_008838.3:g.108631G>C
  • NM_000489.6:c.2617G>C
  • NP_000480.3:p.Glu873Gln

Associated Genes

ATR-X Gene
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Genomic Location

chrX:77682639

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

967071645

Clinvar

388508

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
309580.1Lebanon1Likely PathogenicMental Retardation-Hypotonic Facies Syndrome, X-Linked, 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 26.10.2020

Edit History

  • Pratibha Nair: 26.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.