NM_000168.6:c.2432-1G>A

HGVS Expressions

  • NG_008434.1:g.275379G>A
  • NM_000168.6:c.2432-1G>A
  • NP_000159.3:p.?
  • NC_000007.14:g.41966642C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1406215

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
146510.1.1Saudi Arabia1NAPathogenicPallister-Hall SyndromeMaddirevula et al. 2018
146510.1.2Saudi Arabia1NAPathogenicPallister-Hall SyndromeMaddirevula et al. 2018 Relative of 146510.1.1
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