NM_133171.5:c.1817T>G

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  2. NM_133171.5:c.1817T>G

HGVS Expressions

  • NG_053169.1:g.41542T>G
  • NM_133171.5:c.1817T>G
  • NP_877496.1:p.Ile606Ser

Associated Genes

Engulfment and Cell Motility Gene 2
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Genomic Location

chr20:46370510

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
266270.1.1Lebanon2PathogenicRamon SyndromeMehawej et al. 2018
266270.1.2Lebanon2PathogenicRamon SyndromeMehawej et al. 2018 Sibling of 266270.1.1; decesaed
266270.1.3Lebanon1PathogenicMehawej et al. 2018 Father of 266270.1.1
266270.1.4Lebanon1PathogenicMehawej et al. 2018 Mother of 266270.1.1
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Contributors

  • Pratibha Nair: 14.05.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 14.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.