NM_015102.5:c.673G>T

HGVS Expressions

  • NG_011724.2:g.35678G>T
  • NM_015102.5:c.673G>T
  • NP_055917.1:p.Gly225Cys

Associated Genes

Nephrocystin 4
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Genomic Location

chr1:5961794

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606996.G.1Saudi Arabia4PathogenicSenior-Loken Syndrome 4Patel et al, 2018 2 family members
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