NM_001172574.1:c.1349A>C

HGVS Expressions

  • NG_016619.2:g.43480A>C
  • NM_001172574.1:c.1349A>C
  • NP_001166045.1:p.Lys450Thr
  • NC_000008.11:g.6445071A>C

Associated Genes

Microcephalin 1
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

499746

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251200.1United Arab Emirates1PathogenicMicrocephaly, Primary Autosomal Recessive, 1Saleh et al. 2021 Carries heterozygous deletion of exon 1-...
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