NM_001281723.3:c.1308A>C

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HGVS Expressions

  • NG_008019.2:g.48873A>C
  • NM_001281723.3:c.1308A>C
  • NP_001268653.2:p.Gln436His
  • NC_000003.12:g.15645224A>C

Associated Genes

Biotinidase
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Clinvar Clinical Significance

Likely Benign, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

80338685

Clinvar

1902

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.G.10PalestineNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 UAE resident(s) of Palestinian origin. N...
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Contributors

  • Asha Deepthi: 04.07.2021

Edit History

  • Asha Deepthi: 04.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.