NM_004813.4:c.859C>T

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HGVS Expressions

  • NG_008460.1:g.9277C>T
  • NM_004813.4:c.859C>T
  • NP_004804.2:p.Arg287Cys
  • NC_000011.10:g.45913847G>A

Associated Genes

Peroxisome Biogenesis Factor 16
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

769772100

Clinvar

561075

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614876.1.1United Arab Emirates2Likely PathogenicPeroxisome Biogenesis Disorder 8A (Zellweger)Zaabi et al. 2019 Proband (Patient 'III-6' in the publicat...
614876.1.2United Arab Emirates2Likely PathogenicPeroxisome Biogenesis Disorder 8A (Zellweger)Zaabi et al. 2019 Sister of 614876.1.1 (Patient 'III-9' in...
614876.1.3United Arab Emirates2Likely PathogenicPeroxisome Biogenesis Disorder 8A (Zellweger)Zaabi et al. 2019 Paternal cousin of 614876.1.1 (Patient '...
614877.1.1United Arab Emirates2Likely PathogenicPeroxisome Biogenesis Disorder 8BAl-Shamsi et al. 2016
614877.1.2United Arab Emirates2Likely PathogenicPeroxisome Biogenesis Disorder 8BAl-Shamsi et al. 2016 Sibling of 614877.1.1
614876.1.GUnited Arab Emirates3Zaabi et al. 2019 3 unaffected heterozygous relatives (par...
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Contributors

  • Pratibha Nair: 18.06.2020

Edit History

  • Asha Deepthi: 18.04.2021
  • Pratibha Nair: 18.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.