NM_000528.4:c.215A>T

HGVS Expressions

  • NG_008318.1:g.6028A>T
  • NM_000528.4:c.215A>T
  • NP_000519.2:p.His72Leu
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Genomic Location

chr19:12665750

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1684

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248500.1.1Palestine2PathogenicMannosidosis, Alpha B, LysosomalBach et al. 1978; Nilssen et al. 1997
248500.1.2Palestine2PathogenicMannosidosis, Alpha B, LysosomalBach et al. 1978; Nilssen et al. 1997 Brother of 248500.1.1
248500.1.3Palestine1PathogenicBach et al. 1978; Nilssen et al. 1997 Father of 248500.1.1
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