NM_003647.2:c.325A>G

HGVS Expressions

  • NG_033888.1:g.6022A>G
  • NM_003647.2:c.325A>G
  • NP_003638.1:p.Lys109Glu
  • NC_000017.11:g.56835120A>G
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615008.2.1United Arab Emirates2Likely PathogenicNephrotic Syndrome, Type 7Azukaitis et al. 2017 The patient had an additional affected s...
615008.2.2United Arab Emirates2Likely PathogenicNephrotic Syndrome, Type 7Azukaitis et al. 2017 Brother of 615008.2.1
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