NM_058172.5:c.1340delC

HGVS Expressions

  • NG_015987.1:g.100310delC
  • NM_058172.5:c.1340delC
  • NP_477520.2:p.Pro447fsX12

Associated Genes

Anthrax Toxin Receptor 2
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Genomic Location

chr4:79978014

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
228600.2.1Egypt2PathogenicHyaline Fibromatosis SyndromeEl-Kamah et al. 2010 Sibling of 228600.2.2 & 228600.2.3
228600.2.2Egypt2PathogenicHyaline Fibromatosis SyndromeEl-Kamah et al. 2010 Sibling of 228600.2.1 & 228600.2.3
228600.2.3Egypt2PathogenicHyaline Fibromatosis SyndromeEl-Kamah et al. 2010 Sibling of 228600.2.1 & 228600.2.2
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