NM_201253.3:c.2677-7T>A

HGVS Expressions

  • NG_008483.2:g.232981T>A
  • NM_201253.3:c.2677-7T>A
  • NP_957705.1:p.?
  • NC_000001.11:g.197429442T>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
613835.3United Arab Emirates2Likely PathogenicLeber Congenital Amaurosis 8Khan. 2020
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