NM_001040167.2:c.761C>T

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HGVS Expressions

  • NG_008109.2:g.18182C>T
  • NM_001040167.2:c.761C>T
  • NP_001035257.1:p.Thr254Met
  • NC_000007.14:g.2525710C>T

Associated Genes

LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1252056

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609813.2Saudi Arabia2NALikely PathogenicSpondylocostal Dysostosis 3, Autosomal Recessive Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 05.01.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 22.02.2022
  • Asha Deepthi: 05.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.