NM_000441.2:c.1334T>G

HGVS Expressions

  • NG_008489.1:g.38839T>G
  • NM_000441.2:c.1334T>G
  • NP_000432.1:p.Leu445Trp
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Genomic Location

chr7:107694473

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4829

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274600.G.1Tunisia46PathogenicPendred SyndromeMasmoudi et al. 2000 Two large consanguineous families compri...
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