NM_177924.5:c.505T>C

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  2. NM_177924.5:c.505T>C

HGVS Expressions

  • NG_008985.2:g.27577T>C
  • NM_177924.5:c.505T>C
  • NP_808592.2:p.Trp169Arg
  • NC_000008.11:g.18062422A>G

Associated Genes

N-Acylsphingosine Amidohydrolase 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

756455049

Clinvar

191340

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
228000.2.1United Arab Emirates1Likely PathogenicFarber LipogranulomatosisAl Jasmi, 2012 The patient had a deceased sibling with ...
228000.2.3United Arab Emirates1Al Jasmi, 2012 Mother of 228000.2.1
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Contributors

  • Sayeeda Hana: 17.08.2020

Edit History

  • Sami Bizzari: 10.05.2023
  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 17.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.