NM_001080467.3:c.4844C>T

HGVS Expressions

  • NG_012925.2:g.360930C>T
  • NM_001080467.3:c.4844C>T
  • NP_001073936.1:p.Pro1615Leu
  • NC_000018.10:g.49839152G>A

Associated Genes

Myosin VB
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251850.G.1United Arab Emirates6NAUncertain SignificanceDiarrhea 2, with Microvillus Atrophy, with or without CholestasisAldrian et al. 2021 Three Emirati patients
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