NM_001080467.3:c.1966C>T

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HGVS Expressions

  • NG_012925.2:g.263793C>T
  • NM_001080467.3:c.1966C>T
  • NP_001073936.1:p.Arg656Cys
  • NC_000018.10:g.49936289G>A

Associated Genes

Myosin VB
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

121908105

Clinvar

4251

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251850.G.1United Arab Emirates6NALikely PathogenicDiarrhea 2, with Microvillus Atrophy, with or without CholestasisAldrian et al. 2021 Three Emirati patients
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Contributors

  • Asha Deepthi: 11.08.2022

Edit History

  • Asha Deepthi: 11.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.