NM_058172.6:c.347G>T

HGVS Expressions

  • NG_015987.1:g.22361G>T
  • NM_058172.6:c.347G>T
  • NP_477520.2:p.Gly116Val
  • NC_000004.12:g.80055963C>A

Associated Genes

Anthrax Toxin Receptor 2
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
228600.7.1Lebanon2PathogenicHyaline Fibromatosis SyndromeHaidar et al, 2017 Proband
228600.7.2Lebanon2PathogenicHyaline Fibromatosis SyndromeHaidar et al, 2017 Brother of 228600.7.1
228600.7.3Lebanon2PathogenicHyaline Fibromatosis SyndromeHaidar et al, 2017 Brother of 228600.7.1
228600.7.4Lebanon2PathogenicHyaline Fibromatosis SyndromeHaidar et al, 2017 Relative of 228600.7.1
228600.7.5Lebanon2PathogenicHyaline Fibromatosis SyndromeHaidar et al, 2017 Relative of 228600.7.1
228600.7.6Lebanon1PathogenicHaidar et al, 2017 Unaffected father of 228600.7.1
228600.7.7Lebanon1PathogenicHaidar et al, 2017 Unaffected mother of 228600.7.1
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