NM_000441.2:c.1001G>T

HGVS Expressions

  • NG_008489.1:g.27903G>T
  • NM_000441.2:c.1001G>T
  • NP_000432.1:p.Gly334Val
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Genomic Location

chr7:107683537

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

189039

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274600.2.1Palestine2PathogenicPendred SyndromeWalsh et al. 2006
274600.2.2Palestine2PathogenicPendred SyndromeWalsh et al. 2006 Sister of 274600.2.1
274600.2.3Palestine2PathogenicPendred SyndromeWalsh et al. 2006 First cousin of 274600.2.1
274600.2.4Palestine2PathogenicPendred SyndromeWalsh et al. 2006 First cousin of 274600.2.1
274600.2.5Palestine1Walsh et al. 2006 Father of 274600.2.1
274600.2.6Palestine1Walsh et al. 2006 Mother of 274600.2.1
274600.2.7Palestine1Walsh et al. 2006 Paternal aunt of 274600.2.1, Mother of 2...
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