NM_018848.3:c.1549C>T

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HGVS Expressions

  • NG_009109.2:g.33808C>T
  • NM_018848.3:c.1549C>T
  • NP_061336.1:p.Arg517Cys
  • NC_000020.11:g.10405411G>A

Associated Genes

MKKS Gene
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1547

Clinvar

95922

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605231.1Tunisia2NAUncertain SignificanceBardet-Biedl syndrome 6Smaoui et al. 2006 Patient from family '57005' in the publi...
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Contributors

    Edit History

    • Asha Deepthi: 17.03.2021
    • Asha Deepthi: 26.04.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.