NM_002968.3:c.448AGC[15]

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  2. NM_002968.3:c.448AGC[15]

HGVS Expressions

  • NG_007990.1:g.14499AGC[15]
  • NM_002968.3:c.448AGC[15]
  • NP_002959.2:p.Ser155_Ser159dup
  • NC_000016.10:g.51141745GCT[15]

Associated Genes

Sal-Like 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

113614842

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
107480.1Saudi Arabia1Likely PathogenicTownes-Brocks Syndrome 1Monies et al. 2017
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Contributors

  • Asha Deepthi: 11.11.2024

Edit History

  • Asha Deepthi: 11.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.