NM_000157.3:c.703T>C

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  2. NM_000157.3:c.703T>C

HGVS Expressions

  • NG_009783.1:g.11506T>C
  • NM_000157.3:c.703T>C
  • NP_000148.2:p.Ser235Pro

Associated Genes

Glucosidase, Beta, Acid
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Genomic Location

chr1:155238192

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1064644

Clinvar

21072

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608013.1.1Lebanon1PathogenicGaucher Disease, Perinatal LethalLui et al, 1998; Stone et al, 2000
608013.1.2Lebanon1PathogenicGaucher Disease, Perinatal LethalLui et al, 1998; Stone et al, 2000 Sibling of 608013.1.1
608013.1.3Lebanon2PathogenicGaucher Disease, Perinatal LethalStone et al, 2000 First cousin of 608013.1.1 and 608013.1....
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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.