NM_000475.4:c.857_862del

HGVS Expressions

  • NG_009814.1:g.5872_5877del
  • NM_000475.4:c.857_862del
  • NP_000466.2:p.Leu286_Val287del
  • NC_000023.10:g.30326621ACCAGC[1]
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

623314

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300200.2.1Oman2PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012
300200.2.2Oman2PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 Brother of 300200.2.1
300200.2.3Oman2PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 Brother of 300200.2.1
300200.2.4Oman2PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 Brother of 300200.2.1
300200.G.1Oman14PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 Relatives of 300200.2.1 (4 uncles and 3 ...
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