NM_015120.4:c.11876-3T>G

HGVS Expressions

  • NG_011690.1:g.220440T>G
  • NM_015120.4:c.11876-3T>G
  • NP_055935.4:p.?
  • NC_000002.12:g.73601192T>G
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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
606844.1Lebanon2PathogenicAlstrom SyndromeSanyoura et al. 2014
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