NM_057179.3:c.193C>T

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HGVS Expressions

  • NG_032754.2:g.5377C>T
  • NM_057179.3:c.193C>T
  • NP_476527.1:p.Gln65Ter

Associated Genes

Twist Family bHLH Transcription Factor 2
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Genomic Location

chr2:238848408

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

387906974

Clinvar

30679

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227260.G.1Oman4PathogenicFocal Facial Dermal Dysplasia 3, Setleis TypeTukel et al. 2010 Two affected first cousins from a consan...
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Contributors

    Edit History

    • Asha Deepthi: 06.08.2020
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    © CAGS 2024. All rights reserved.