NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del

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  2. NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del

HGVS Expressions

  • NG_009306.2:g.(131318_131877)_(139061_139539)del
  • NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del
  • NC_000007.14:g.(33255561_33256120)_(33263304_33263782)del

Associated Genes

Parathyroid Hormone-Responsive B1 Gene
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615986.2.1Saudi Arabia2PathogenicBardet-Biedl Syndrome 9Abu-Safieh et al. 2012 "BBS-F015-A" in the publication
615986.2.2Saudi Arabia2PathogenicBardet-Biedl Syndrome 9Abu-Safieh et al. 2012 Sibling of 615986.2.1 "BBS-F015-B" in t...
615986.2.3Saudi Arabia2PathogenicBardet-Biedl Syndrome 9Abu-Safieh et al. 2012 Sibling of 615986.2.1 "BBS-F015-C" in t...
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Contributors

  • Sayeeda Hana: 20.07.2022

Edit History

  • Sayeeda Hana: 21.07.2022
  • Sayeeda Hana: 20.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.