NM_005029.3:c.640_656del

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HGVS Expressions

  • NG_008147.1:g.15692_15708del
  • NM_005029.3:c.640_656del17
  • NP_005020.1:p.Ala214ArgfsTer42
  • NC_000010.11:g.102230778_102230794del

Associated Genes

Paired-Like Homeodomain Transcription Factor 3
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1411557416

Clinvar

468252

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
107250.1.1Saudi Arabia2PathogenicAnterior Segment Dysgenesis 1Aldamesh et al, 2011; Patel et al. 2018 First report of AR transmission of ASGD1...
107250.1.2Saudi Arabia1PathogenicAldamesh et al, 2011 Mother of 107250.1.1
107250.1.3Saudi Arabia1PathogenicAldamesh et al, 2011 Father of 107250.1.1
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Contributors

  • Pratibha Nair: 02.10.2018

Edit History

  • Pratibha Nair: 28.09.2023
  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 26.09.2020
  • Pratibha Nair: 17.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.