NM_001377.3:c.1151C>T

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  2. NM_001377.3:c.1151C>T

HGVS Expressions

  • NG_016423.2:g.16275C>T
  • NM_001377.3:c.1151C>T
  • NP_001368.2:p.Ala384Val
  • NC_000011.10:g.103120705C>T

Associated Genes

Dynein, Cytoplasmic 2, Heavy Chain 1
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

369614706

Clinvar

446677

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613091.3Saudi Arabia2NALikely PathogenicShort-Rib Thoracic Dysplasia 3 with or without PolydactylyMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 16.11.2021

Edit History

  • Asha Deepthi: 16.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.