NM_001170754.2:c.337C>T

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HGVS Expressions

  • NM_001170754.2:c.337C>T
  • NP_001164225.1:p.Arg113Ter
  • NC_000001.11:g.10966393G>A

Associated Genes

Chromosome 1 Open Reading Frame 127
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

558323413

Clinvar

1335917

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
244400.3.1United Arab Emirates2NAUncertain SignificanceCiliary Dyskinesia, Primary, 1Alsamri et al. 2021 'Patient 1' in the publication. Primary ...
244400.3.2United Arab Emirates1NAAlsamri et al. 2021 Father of 244400.3.1
244400.3.3United Arab Emirates1NAAlsamri et al. 2021 Mother of 244400.3.1
244400.3.4United Arab Emirates2NAUncertain SignificanceCiliary Dyskinesia, Primary, 1Alsamri et al. 2021 'Patient 2' in the publication (cousin o...
244400.3.5United Arab Emirates1NAAlsamri et al. 2021 Father of 244400.3.4
244400.3.6United Arab Emirates1NAAlsamri et al. 2021 Mother of 244400.3.4
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Contributors

  • Asha Deepthi: 29.08.2022

Edit History

  • Asha Deepthi: 29.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.