NM_170784.3:c.1646T>C

HGVS Expressions

  • NG_009109.2:g.33905T>C
  • NM_170784.3:c.1646T>C
  • NP_740754.1:p.Leu549Pro
  • NC_000020.11:g.10405314A>G

Associated Genes

MKKS Gene
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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
605231.4.1Saudi Arabia2Likely PathogenicBardet-Biedl syndrome 6Aldahmesh et al. 2014
605231.4.2Saudi Arabia2Likely PathogenicBardet-Biedl syndrome 6Aldahmesh et al. 2014 Sibling of 605231.4.1
605231.4.3Saudi Arabia2Likely PathogenicBardet-Biedl syndrome 6Aldahmesh et al. 2014 Sibling of 605231.4.1
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