NM_017519.3:c.4567C>T

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HGVS Expressions

  • NG_066624.1:g.429926C>T
  • NM_017519.3:c.4567C>T
  • NP_001358585.1:p.Gln1536Ter
  • NC_000006.12:g.157200951C>T

Associated Genes

AT-Rich Interaction Domain-Containing Protein 1B
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1554235684

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
135900.3.1United Arab Emirates1Likely PathogenicCoffin-Siris Syndrome 1Ben-Salem et al. 2016 Baluchi origin Emirati national
135900.3.2United Arab Emirates1Likely PathogenicCoffin-Siris Syndrome 1Ben-Salem et al. 2016 Brother of 135900.3.1
135900.3.3United Arab Emirates1Likely PathogenicCoffin-Siris Syndrome 1Ben-Salem et al. 2016 Brother of 135900.3.1
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Contributors

  • Sayeeda Hana: 12.09.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 12.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.