NM_005029.3:c.650delG

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HGVS Expressions

  • NG_008147.1:g.15702delG
  • NM_005029.3:c.650delG

Associated Genes

Paired-Like Homeodomain Transcription Factor 3
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Genomic Location

Chr10:102230775

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1564991256

Clinvar

6939

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610623.G.1.1Lebanon23PathogenicCataract 11, Multiple TypesBidinost et al, 2006 23 affected heterozygotes in the same fa...
610623.G.1.2Lebanon4PathogenicCataract 11, Multiple TypesBidinost et al, 2006 2 affected homozygote brothers. Same fam...
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Contributors

  • Pratibha Nair: 02.10.2018

Edit History

  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 17.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.