NM_000157.4:c.160G>A

HGVS Expressions

  • NG_009783.1:g.9665G>A
  • NM_000157.4:c.160G>A
  • NP_000148.2:p.Val54Met
  • NC_000001.11:g.155240033C>T

Associated Genes

Glucosidase, Beta, Acid
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230900.1Palestine2PathogenicGaucher Disease, Type IIAl-Jasmi et al. 2013
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