NM_031885.5:c.1080+149G>A

HGVS Expressions

  • NG_009312.2:g.22857G>A
  • NM_031885.5:c.1080+149G>A
  • NC_000016.10:g.56502168C>T

Associated Genes

BBS2 Gene
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

Clinvar

1239372

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615982.3Saudi Arabia1BenignAbu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F013-A" in the publication
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