NM_001083962.1:c.947del

HGVS Expressions

  • NG_011716.1:g.332121del
  • NM_001083962.1:c.947del
  • NP_001077431.1:p.Gly316AlafsTer75
  • NC_000018.10:g.55261510del

Associated Genes

Transcription Factor 4
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610954.1United Arab Emirates1Likely PathogenicPitt-Hopkins SyndromeSaleh et al. 2021 Germline mosaicism; Similarly affected s...
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