NM_003839.4:c.400G>A

HGVS Expressions

  • NG_008098.1:g.34193G>A
  • NM_003839.4:c.400G>A
  • NP_003830.1:p.Ala134Thr
  • NC_000018.10:g.62354507G>A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612301.1United Arab Emirates2Likely PathogenicOsteopetrosis, Autosomal Recessive 7Alabdullatif et al. 2017
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