NM_020919.3:c.1998+42A>G

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HGVS Expressions

  • NG_008775.1:g.39649A>G
  • NM_020919.3:c.1998+42A>G
  • NP_065970.2:p.?
  • NC_000002.12:g.201746524T>C

Associated Genes

Alsin Rho Guanine Nucleotide Exchange Factor Als2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

373385520

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607225.1United Arab Emirates2Likely PathogenicSpastic Paralysis, Infantile-Onset AscendingSaleh et al. 2021 Similarly affected sister and cousin
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Contributors

  • Pratibha Nair: 12.01.2022

Edit History

  • Sayeeda Hana: 06.12.2022
  • Rahila Mir: 08.02.2022
  • Pratibha Nair: 12.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.