NM_022482.5:c.865G>T

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  2. NM_022482.5:c.865G>T

HGVS Expressions

  • NM_022482.5:c.865G>T
  • NP_071927.1:p.Glu289Ter
  • NC_000020.11:g.23365248G>T

Associated Genes

GDNF-Inducible Zinc Finger Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1555786618

Clinvar

438348

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617662.1.1Saudi Arabia2PathogenicJoint Laxity, Short Stature, and MyopiaPatel et al. 2017 Patient from 'family 1' in the publicati...
617662.1.2Saudi Arabia2PathogenicJoint Laxity, Short Stature, and MyopiaPatel et al. 2017 Brother of 617662.1.1
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Contributors

  • Asha Deepthi: 28.03.2023

Edit History

  • Asha Deepthi: 28.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.