NM_138694.4:c.5086T>G

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  2. NM_138694.4:c.5086T>G

HGVS Expressions

  • NG_008753.1:g.67902T>G
  • NM_138694.4:c.5086T>G
  • NP_619639.3:p.Ser1696Ala
  • NC_000006.12:g.52024724A>C

Associated Genes

PKHD1 Ciliary IPT Domain-Containing Fibrocystin/Polyductin
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1562160374

Clinvar

598017

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
191830.1Lebanon1Likely PathogenicRenal Hypodysplasia/Aplasia 1Nair et al. 2018 One kidney missing
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Contributors

  • Pratibha Nair: 15.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 15.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.