NM_000489.6:c.5666T>G

HGVS Expressions

  • NG_008838.3:g.190805T>G
  • NM_000489.6:c.5666T>G
  • NP_000480.3:p.Leu1889Trp

Associated Genes

ATR-X Gene
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Genomic Location

chrX:77600465

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
301040.1.1Yemen1PathogenicAlpha-Thalassemia/Mental Retardation Syndrome, X-LinkedHamzeh et al. 2016
301040.1.2Yemen1PathogenicAlpha-Thalassemia/Mental Retardation Syndrome, X-LinkedHamzeh et al. 2016 Sibling of 301040.1.1
301040.1.3Yemen1PathogenicHamzeh et al. 2016 Mother of 301040.1.1; X-Chromosome with ...
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