NM_000115.5:c.914G>A

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HGVS Expressions

  • NG_011630.3:g.78629G>A
  • NM_000115.5:c.914G>A
  • NP_000106.1:p.Ser305Asn
  • NC_000013.11:g.77901095C>T

Associated Genes

Endothelin Receptor, Type B
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

5352

Clinvar

16638

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235730.2.1Morocco1Likely BenignShprintzen-Goldberg Craniosynostosis SyndromeBrooks et al. 1999 The patient had two relatives with confi...
235730.2.2Morocco1Likely BenignBrooks et al. 1999 Mother of 235730.2.1
235730.2.3Morocco1Likely BenignBrooks et al. 1999 First cousin, once removed, of 235730.2....
235730.2.4Morocco1Likely BenignBrooks et al. 1999 First cousin, once removed, of 235730.2....
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Contributors

  • Sayeeda Hana: 12.11.2020

Edit History

  • Pratibha Nair: 18.10.2022
  • Sami Bizzari: 12.09.2022
  • Sayeeda Hana: 15.11.2020
  • Sayeeda Hana: 12.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.