NM_152384.3:c.425T>A

HGVS Expressions

  • NG_011567.1:g.18417T>A
  • NM_152384.3:c.425T>A
  • NP_689597.1:p.Leu142Ter
  • NC_000002.12:g.169492912T>A

Associated Genes

BBS5 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

6158

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615983.2.1Saudi Arabia2NALikely PathogenicBardet-Biedl syndrome 5 Li et al. 2004 Patient from Family 'KK63' in the public...
615983.2.2Saudi Arabia2NALikely PathogenicBardet-Biedl syndrome 5 Li et al. 2004 Brother of 615983.2.1
615983.2.3Saudi Arabia1NALi et al. 2004 Sister of 615983.2.1
615983.2.4Saudi Arabia1NALi et al. 2004 Father of 615983.2.1
615983.2.5Saudi Arabia1NALi et al. 2004 Mother of 615983.2.1
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