NM_198428.3:c.2258A>T

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HGVS Expressions

  • NG_009306.2:g.381362A>T
  • NM_198428.3:c.2258A>T
  • NP_940820.1:p.Glu753Val

Associated Genes

Parathyroid Hormone-Responsive B1 Gene
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Genomic Location

chr7:33505605

Clinvar Clinical Significance

Likely Benign, Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

61764068

Clinvar

383539

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615986.1.1Lebanon2PathogenicBardet-Biedl Syndrome 9Jaffal et al, 2019b
615986.1.2Lebanon1Jaffal et al, 2019b Father of 615986.1.1
615986.1.3Lebanon1Jaffal et al, 2019b Mother of 615986.1.1
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Contributors

  • Sayeeda Hana: 15.10.2020

Edit History

  • Sayeeda Hana: 15.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.