NM_152384.3:c.214G>A

HGVS Expressions

  • NG_011567.1:g.13316G>A
  • NM_152384.3:c.214G>A
  • NP_689597.1:p.Gly72Ser
  • NC_000002.12:g.169487811G>A

Associated Genes

BBS5 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

6161

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615983.1.1Somalia2NALikely PathogenicBardet-Biedl syndrome 5 Hjortshoj et al. 2008 Patient from Family '1' in the publicati...
615983.1.2Somalia2NALikely PathogenicBardet-Biedl syndrome 5 Hjortshoj et al. 2008 Sibling of 615983.1.1
615983.1.3Somalia2NALikely PathogenicBardet-Biedl syndrome 5 Hjortshoj et al. 2008 Sibling of 615983.1.1
615983.1.4Somalia2NALikely PathogenicBardet-Biedl syndrome 5 Hjortshoj et al. 2008 Sibling of 615983.1.1
615983.1.5Somalia1NAHjortshoj et al. 2008 Unaffected father of 615983.1.1
615983.1.6Somalia1NAHjortshoj et al. 2008 Unaffected mother of 615983.1.1
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