NM_152384.3:c.551A>G

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  2. NM_152384.3:c.551A>G

HGVS Expressions

  • NG_011567.1:g.19274A>G
  • NM_152384.3:c.551A>G
  • NP_689597.1:p.Asn184Ser

Associated Genes

BBS5 Gene
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Genomic Location

chr2:169493769

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

137853921

Clinvar

100605

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615989.1Lebanon1Likely BenignJaffal et al, 2019b
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Contributors

  • Sayeeda Hana: 15.10.2020

Edit History

  • Sayeeda Hana: 15.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.