NM_000441.1:c.1002-9A>C

HGVS Expressions

  • NG_008489.1:g.33410A>C
  • NM_000441.1:c.1002-9A>C
  • NP_000432.1:p.?
  • NC_000007.14:g.107689044A>C
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

Clinvar

43489

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605646.GUnited Arab Emirates1BenignChouchen et al. 2021 Heterozygous variants in at least 22 ind...
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