NM_002887.3:c.1316C>A

HGVS Expressions

  • NG_041809.1:g.25344C>A
  • NM_002887.3:c.1316C>A
  • NP_002878.2:p.Ala439Asp
  • NC_000005.10:g.168506801C>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

977922

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616140.1.1United Arab Emirates2Likely PathogenicLeukodystrophy, Hypomyelinating, 9Mendes et al. 2020
616140.1.2United Arab Emirates2Likely PathogenicLeukodystrophy, Hypomyelinating, 9Mendes et al. 2020
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