NM_080680.3:c.2755G>C

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HGVS Expressions

  • NG_011589.1:g.24374G>C
  • NM_080680.3:c.2755G>C
  • NP_542411.2:p.Gly919Arg
  • NC_000006.12:g.33173095C>G

Associated Genes

Collagen, Type XI, Alpha-2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

956025660

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215151.2Saudi Arabia2NALikely PathogenicOtospondylomegaepiphyseal Dysplasia, Autosomal RecessiveMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 02.11.2021

Edit History

  • Rahila Mir: 22.02.2022
  • Asha Deepthi: 02.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.