NM_001282716.1:c.1945_1946CT[3]

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HGVS Expressions

  • NG_034114.1:g.28130_28131CT[3]
  • NM_001282716.1:c.1945_1946CT[3]
  • NP_001269645.1:p.Tyr650fs

Associated Genes

Stromal Antigen 3
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Genomic Location

chr7:100200853-100200854

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

dbSNP

869320765

Clinvar

224903

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615723.1.1Lebanon2PathogenicPremature Ovarian Failure 8Le Quesne Stabej et al, 2016 Proband
615723.1.2Lebanon2PathogenicPremature Ovarian Failure 8Le Quesne Stabej et al, 2016 Sister of 615723.1.1
615723.1.3Lebanon1PathogenicLe Quesne Stabej et al, 2016 Unaffected father of 615723.1.1
615723.1.4Lebanon1PathogenicLe Quesne Stabej et al, 2016 Unaffected mother of 615723.1.1
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Contributors

  • Sayeeda Hana: 17.02.2020

Edit History

  • Sayeeda Hana: 26.09.2020
  • Sayeeda Hana: 17.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.