NM_000157.3:c.1497G>C

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  2. NM_000157.3:c.1497G>C

HGVS Expressions

  • NG_009783.1:g.14495G>C
  • NM_000157.3:c.1497G>C
  • NP_000148.2:p.Val499=

Associated Genes

Glucosidase, Beta, Acid
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Genomic Location

chr1:155235203

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Benign, Likely Benign

Variant Type

Substitution

dbSNP

1135675

Clinvar

93451

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608013.2Lebanon2Benign, Likely BenignGaucher 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.