NM_176824.3:c.124G>A

HGVS Expressions

  • NG_009111.1:g.12230G>A
  • NM_176824.3:c.124G>A
  • NP_789794.1:p.Gly42Arg
  • NC_000004.12:g.121863258C>T

Associated Genes

BBS7 Gene
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615984.1United Arab Emirates2NAUncertain SignificanceBardet-Biedl Syndrome 7Mahfouz et al. 2020
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