NM_000492.3:c.1517T>C

HGVS Expressions

  • NG_016465.4:g.98805T>C
  • NM_000492.3:c.1517T>C
  • NP_000483.3:p.Ile506Thr
  • NC_000007.14:g.117559588T>C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

53276

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.G.2.8KuwaitNANALikely PathogenicCystic FibrosisSamilchuk, 2005 Unknown number of patients
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