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

HGVS Expressions

  • NG_016465.4:g.87851_87852del
  • NM_000492.4:c.1210-7_1210-6del
  • NC_000007.14:g.117548634_117548635del
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Clinvar Clinical Significance

Pathogenic, Risk factor, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1805177

Clinvar

242535

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277180.4Egypt1NALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofLissens et al. 1999
277180.G.1.2KuwaitLikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofSamilchuk, 2005 Unknown number of patients with CBAVD
277180.G.2.3Egypt10NALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofLissens et al. 1999 5 patients with CBAVD
277180.G.2.4Egypt3NALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofLissens et al. 1999 3 patients with CBAVD
277180.G.3.3Egypt4NALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofHussein et al. 2011 2 out of 30 patients with CBAVD
277180.G.3.6Egypt6NALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofHussein et al. 2011 6 out of 30 patients with CBAVD
277180.G.3.7Egypt6NALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofHussein et al. 2011 6 out of 30 patients with CBAVD
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