NM_000360.4:c.646G>A

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  2. NM_000360.4:c.646G>A

HGVS Expressions

  • NG_008128.1:g.9322G>A
  • NM_000360.4:c.646G>A
  • NP_000351.2:p.Gly216Ser
  • NC_000011.10:g.2167484C>T

Associated Genes

Tyrosine Hydroxylase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

762304556

Clinvar

948892

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
191290.G.1Qatar40.009PathogenicDevadoss Gandhi et al. 2024 4 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 23.01.2025

Edit History

  • Sayeeda Hana: 23.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.