NM_001289123.1:c.916G>A

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  2. NM_001289123.1:c.916G>A

HGVS Expressions

  • NG_033896.1:g.12113G>A
  • NM_001289123.1:c.916G>A
  • NP_001276052.1:p.Val306Ile
  • NC_000019.10:g.6495736C>T

Associated Genes

Tubulin, Beta-4A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

767399782

Clinvar

217025

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612438.1United Arab Emirates1PathogenicLeukodystrophy, Hypomyelinating, 6Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 14.09.2021

Edit History

  • Pratibha Nair: 14.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.