NM_014112.5:c.933G>C

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  2. NM_014112.5:c.933G>C

HGVS Expressions

  • NG_012383.3:g.54837G>C
  • NM_014112.5:c.933G>C
  • NP_054831.2:p.Arg311Ser

Associated Genes

Zinc Finger Transcription Factor TRPS1
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Genomic Location

chr8:115619165

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

886043713

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
306955.2.1Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKamar et al. 2017
306955.2.2Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKamar et al. 2017 Sibling of 306955.2.1
306955.2.3Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKamar et al. 2017 Sibling of 306955.2.1. Monozygotic twin ...
306955.2.4Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKamar et al. 2017 Sibling of 306955.2.1. Monozygotic twin ...
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Contributors

  • Pratibha Nair: 27.05.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 27.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.