NM_003880.3:c.168G>T

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HGVS Expressions

  • NG_011748.1:g.12036G>T
  • NM_003880.3:c.168G>T
  • NP_003871.1:p.Gln56His
  • NC_000006.12:g.112061110G>T

Associated Genes

Cellular Communication Network Factor 6
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

1230345

Clinvar

355060

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208230.8Jordan2NALikely BenignProgressive Pseudorheumatoid DysplasiaHurvitz et al. 1999 Patient from 'Family 10' in the publicat...
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Contributors

    Edit History

    • Asha Deepthi: 15.03.2021
    • Asha Deepthi: 18.02.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.