NM_004646.3:c.1134G>A

HGVS Expressions

  • NG_013356.2:g.25615G>A
  • NM_004646.3:c.1134G>A
  • NP_004637.1:p.Trp378Ter
  • NC_000019.10:g.35848673C>T

Associated Genes

Nephrin
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

56426

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256300.G.1United Arab EmiratesPathogenicNephrotic Syndrome, Type 1Al-Gazali and Ali, 2010 Family with unknown number of members af...
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