NM_000157.3:c.1448T>C

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  2. NM_000157.3:c.1448T>C

HGVS Expressions

  • NG_009783.1:g.14446T>C
  • NM_000157.3:c.1448T>C
  • NP_000148.2:p.Leu483Pro

Associated Genes

Glucosidase, Beta, Acid
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Genomic Location

chr1:155235252

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

421016

Clinvar

4288

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230800.2.1Lebanon1Likely PathogenicGaucher Disease, Type IEl-Zahabi et al, 2007
230800.2.2Lebanon1Likely PathogenicGaucher Disease, Type IEl-Zahabi et al, 2007 Nephew of 230800.2.1
230800.4Lebanon1PathogenicGaucher Disease, Type IYassin et al. 2008
608013.2Lebanon2Likely PathogenicGaucher Disease, Perinatal LethalStone et al, 2000
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Contributors

  • Pratibha Nair: 23.04.2019

Edit History

  • Pratibha Nair: 22.06.2020
  • Sayeeda Hana: 22.03.2020
  • Pratibha Nair: 23.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.