NM_000157.4:c.1228C>G

HGVS Expressions

  • NG_009783.1:g.13857C>G
  • NM_000157.4:c.1228C>G
  • NP_000148.2:p.Leu410Val

Associated Genes

Glucosidase, Beta, Acid
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Genomic Location

chr1:155235841

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4332

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230800.3.1Lebanon2PathogenicGaucher Disease, Type IShamseddine et al, 2004 Proband
230800.3.2Lebanon2PathogenicGaucher Disease, Type IShamseddine et al, 2004 Brother of 230800.3.1
230800.3.3Lebanon2PathogenicGaucher Disease, Type IShamseddine et al, 2004 Brother of 230800.3.1
230800.3.4Lebanon2PathogenicGaucher Disease, Type IShamseddine et al, 2004 Nephew of 230800.3.1
230800.3.5Lebanon2PathogenicGaucher Disease, Type IShamseddine et al, 2004 Niece of 230800.3.1, Sister of 230800.3....
230800.3.6Lebanon2PathogenicGaucher Disease, Type IShamseddine et al, 2004 First cousin, twice removed of 230800.3....
230800.4Lebanon1PathogenicGaucher Disease, Type IYassin et al. 2008
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