NM_000492.4:c.1210-7_1210-6dup

HGVS Expressions

  • NG_016465.4:g.87851_87852dup
  • NM_000492.4:c.1210-7_1210-6dup
  • NC_000007.14:g.117548634_117548635dup
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Duplication

dbSNP

1805177

Clinvar

161188

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277180.1Kuwait1NAUncertain SignificanceVas Deferens, Congenital Bilateral Aplasia ofLissens et al. 1999
277180.3Egypt1NAUncertain SignificanceVas Deferens, Congenital Bilateral Aplasia ofLissens et al. 1999
277180.4Egypt1NAUncertain SignificanceVas Deferens, Congenital Bilateral Aplasia ofLissens et al. 1999
277180.G.3.4Egypt6NAUncertain SignificanceVas Deferens, Congenital Bilateral Aplasia ofHussein et al. 2011 3 out of 30 patients with CBAVD
277180.G.3.5Egypt10NAUncertain SignificanceVas Deferens, Congenital Bilateral Aplasia ofHussein et al. 2011 10 out of 30 patients with CBAVD
277180.G.3.7Egypt6NAUncertain SignificanceVas Deferens, Congenital Bilateral Aplasia ofHussein et al. 2011 6 out of 30 patients with CBAVD
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