NM_015662.3:c.4630C>T

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HGVS Expressions

  • NG_034068.1:g.47268C>T
  • NM_015662.3:c.4630C>T
  • NP_056477.1:p.Arg1544Cys
  • NC_000002.12:g.27447544G>A

Associated Genes

Intraflagellar Transport 172
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587777079

Clinvar

97024

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
266920.3Saudi Arabia2NALikely PathogenicShort-Rib Thoracic Dysplasia 9 with or without PolydactylyMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 27.12.2021

Edit History

  • Asha Deepthi: 27.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.