NM_001077418.3:c.815A>C

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HGVS Expressions

  • NG_033109.1:g.21157A>C
  • NM_001077418.3:c.815A>C
  • NP_001070886.1:p.Gln272Pro
  • NC_000016.10:g.75540130T>G

Associated Genes

Transmembrane Protein 231
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514754

Clinvar

64620

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615398.2Saudi Arabia2NAPathogenicMeckel Syndrome, Type 11Shaheen et al. 2013; Shaheen et al. 2013b Case 'MKS_F18' in the publication
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Contributors

  • Asha Deepthi: 15.03.2023

Edit History

  • Asha Deepthi: 15.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.