NM_031885.5:c.612+108T>C

HGVS Expressions

  • NG_009312.2:g.15176T>C
  • NM_031885.5:c.612+108T>C
  • NP_114091.4:p.?
  • NC_000016.10:g.56509849A>G

Associated Genes

BBS2 Gene
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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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