NM_001277115.1:c.5132A>G

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  2. NM_001277115.1:c.5132A>G

HGVS Expressions

  • NG_012886.2:g.120621A>G
  • NM_001277115.1:c.5132A>G
  • NP_001264044.1:p.Gln1711Arg
  • NC_000007.14:g.21658835A>G

Associated Genes

Dynein, Axonemal, Heavy Chain 11
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

189432084

Clinvar

219477

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611884.2United Arab Emirates1Likely BenignAlsamri et al. 2021
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Contributors

  • Pratibha Nair: 31.08.2022

Edit History

  • Pratibha Nair: 31.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.