NM_000475.4:c.1130A>G

HGVS Expressions

  • NG_009814.1:g.6145A>G
  • NM_000475.4:c.1130A>G
  • NP_000466.2:p.Glu377Gly
  • NC_000023.11:g.30308234T>C
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300200.1.1United Arab Emirates2Likely PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012
300200.1.2United Arab Emirates2Likely PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 Brother of 300200.1.1
300200.1.3United Arab Emirates2Likely PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 First cousin of 300200.1.1
300200.1.4United Arab Emirates2Likely PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 Uncle of 300200.1.1
300200.1.5United Arab Emirates2Likely PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 Uncle of 300200.1.1
300200.1.6United Arab Emirates2Likely PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 First cousin, once removed, of 300200.1....
300200.1.7United Arab Emirates2Likely PathogenicAdrenal Hypoplasia, CongenitalWalker et al. 2012 First cousin, once removed, of 300200.1....
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