NM_001277115.1:c.8072A>G

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  2. NM_001277115.1:c.8072A>G

HGVS Expressions

  • NG_012886.2:g.203870A>G
  • NM_001277115.1:c.8072A>G
  • NP_001264044.1:p.Gln2691Arg
  • NC_000007.14:g.21742084A>G

Associated Genes

Dynein, Axonemal, Heavy Chain 11
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Clinvar Clinical Significance

Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

183682756

Clinvar

525225

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.1.1United Arab Emirates1Likely BenignAlsamri et al. 2020; Alsamri et al. 2021 Several variants could be contributing t...
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Contributors

  • Pratibha Nair: 17.02.2022

Edit History

  • Sayeeda Hana: 13.01.2023
  • Pratibha Nair: 17.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.