NM_000157.3:c.1483G>C

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  2. NM_000157.3:c.1483G>C

HGVS Expressions

  • NG_009783.1:g.14481G>C
  • NM_000157.3:c.1483G>C
  • NP_000148.2:p.Ala495Pro

Associated Genes

Glucosidase, Beta, Acid
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Genomic Location

chr1:155235217

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

368060

Clinvar

93450

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608013.2Lebanon2BenignGaucher Disease, Perinatal LethalStone et al, 2000
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Contributors

  • Pratibha Nair: 23.04.2019

Edit History

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