NM_022132.5:c.1015G>A

HGVS Expressions

  • NG_008882.1:g.58731G>A
  • NM_022132.5:c.1015G>A
  • NP_071415.1:p.Val339Met
  • NC_000005.10:g.71641018G>A
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Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

203805

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268800.5United Arab Emirates1Al-Shamsi et al. 2016 Low serum hexosaminidase activity
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