NM_016145.4:c.156+1G>T

HGVS Expressions

  • NG_015814.1:g.7324C>A
  • NM_016145.4:c.156+1G>T
  • NP_057229.1:p.?
  • NC_000019.10:g.12669127C>A

Associated Genes

WDR83 Opposite Strand
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1329852

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
211600.3.1Saudi Arabia2Likely PathogenicCholestasis, Progressive Familial Intrahepatic, 1Maddirevula et al. 2019
211600.3.2Saudi Arabia2Likely PathogenicCholestasis, Progressive Familial Intrahepatic, 1Maddirevula et al. 2019 Brother of 211600.3.1
211600.3.3Saudi Arabia2Likely PathogenicCholestasis, Progressive Familial Intrahepatic, 1Maddirevula et al. 2019 Sister of 211600.3.1
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