NM_000104.3:c.2T>C

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  2. NM_000104.3:c.2T>C

HGVS Expressions

  • NG_008386.2:g.5715T>C
  • NM_000104.3:c.2T>C
  • NP_000095.2:p.Met1Thr

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Genomic Location

chr2:38075387

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72549389

Clinvar

7736

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.48Lebanon2PathogenicGlaucoma 3, Primary Congenital, AAl-Haddad et al. 2016
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Contributors

  • Pratibha Nair: 22.06.2020

Edit History

  • Pratibha Nair: 22.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.