NM_000536.3:c.1375A>C

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  2. NM_000536.3:c.1375A>C

HGVS Expressions

  • NG_033154.1:g.3302T>G
  • NM_000536.3:c.1375A>C
  • NP_000527.2:p.Met459Leu
  • NC_000011.10:g.36592794T>G

Associated Genes

Recombination-Activating Gene 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1204766339

Clinvar

496632

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603554.1.1Lebanon2Likely PathogenicOmenn SyndromeChou et al. 2012
603554.1.2Lebanon2Likely PathogenicOmenn SyndromeChou et al. 2012 4th degree cousin of 603554.1.1
603554.1.G.1Lebanon6Likely PathogenicChou et al. 2012 Unaffected parents of 603554.1.1 and 603...
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Contributors

  • Pratibha Nair: 12.07.2021

Edit History

  • Pratibha Nair: 12.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.