NM_017950.4:c.1520A>T

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  2. NM_017950.4:c.1520A>T

HGVS Expressions

  • NG_029761.1:g.33933A>T
  • NM_017950.4:c.1520A>T
  • NP_060420.2:p.Lys507Met
  • NC_000017.11:g.80065564A>T

Associated Genes

Coiled-Coil Domain-Containing Protein 40
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

563467821

Clinvar

1306618

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.2.1United Arab Emirates1Uncertain SignificanceAlsamri et al. 2020; Alsamri et al. 2021
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Contributors

  • Pratibha Nair: 23.02.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 24.02.2022
  • Pratibha Nair: 23.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.