NM_001369.2:c.12709G>T

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HGVS Expressions

  • NG_013081.2:g.232794G>T
  • NM_001369.2:c.12709G>T
  • NP_001360.1:p.Val4237Phe
  • NC_000005.10:g.13716687C>A

Associated Genes

Dynein, Axonemal, Heavy Chain 5
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

138045391

Clinvar

454739

Epidemiology in the Arab World

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Contributors

  • Pratibha Nair: 15.02.2022

Edit History

  • Sayeeda Hana: 13.01.2023
  • Pratibha Nair: 17.02.2022
  • Pratibha Nair: 15.02.2022
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.