NM_020975.6:c.2735G>A

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  2. NM_020975.6:c.2735G>A

HGVS Expressions

  • NG_007489.1:g.49882G>A
  • NM_020975.6:c.2735G>A
  • NP_066124.1:p.Arg912Gln

Associated Genes

Rearranged during Transfection Protooncogene
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Genomic Location

chr10:43121950

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

78347871

Clinvar

24967

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: 15.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.