NM_000115.5:c.548C>G

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  2. NM_000115.5:c.548C>G

HGVS Expressions

  • NG_011630.3:g.76181C>G
  • NM_000115.5:c.548C>G
  • NP_001116131.1:p.Ala183Gly

Associated Genes

Endothelin Receptor, Type B
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Genomic Location

chr13:77903543

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

104894388

Clinvar

16634

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277580.2.1Tunisia2Likely PathogenicWaardenburg Syndrome, Type 4AAttie et al. 1995
277580.2.2Tunisia2Likely PathogenicWaardenburg Syndrome, Type 4AAttie et al. 1995 Sister of 277580.2.1
277580.2.3Tunisia1Attie et al. 1995 Father of 277580.2.1
277580.2.4Tunisia1Attie et al. 1995 Mother of 277580.2.1
277580.2.5Tunisia1Attie et al. 1995 Brother of 277580.2.1
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Contributors

  • Sayeeda Hana: 12.11.2020

Edit History

  • Sayeeda Hana: 15.11.2020
  • Sayeeda Hana: 12.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.