NM_006907.4:c.616G>A

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HGVS Expressions

  • NG_023032.1:g.7423G>A
  • NM_006907.4:c.616G>A
  • NP_008838.2:p.Gly206Arg
  • NC_000017.11:g.81934670C>T

Associated Genes

Pyrroline-5-Carboxylate Reductase 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

121918375

Clinvar

68789

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612940.1Saudi Arabia2NALikely PathogenicCutis Laxa, Autosomal Recessive, Type IIBMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 11.02.2022

Edit History

  • Asha Deepthi: 11.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.