NM_144596.4:c.1347+21A>G

HGVS Expressions

  • NG_008126.2:g.53321A>G
  • NM_144596.4:c.1347+21A>G
  • NC_000014.9:g.88872473A>G
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CTGA Clinical Significance

Benign

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615989.2.1United Arab Emirates1BenignAbu-Safieh et al. 2012 "BBS-F027-A" in the publication
615989.2.2United Arab Emirates1BenignAbu-Safieh et al. 2012 Sibling of 615989.2.1 "BBS-F027-B" in t...
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