NM_005633.3:c.1352C>A

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  2. NM_005633.3:c.1352C>A

HGVS Expressions

  • NG_007530.1:g.102388C>A
  • NM_005633.3:c.1352C>A
  • NP_005624.2:p.Thr451Lys

Associated Genes

SOS RAS/RAC Guanine Nucleotide Exchange Factor 1
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Genomic Location

chr2:39023076

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

730880218

Clinvar

180531

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610733.1Lebanon1PathogenicNoonan Syndrome 4Nair et al. 2018
610733.2Lebanon1Likely PathogenicNoonan Syndrome 4Kruszka et al. 2017
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Contributors

  • Pratibha Nair: 29.04.2020

Edit History

  • Pratibha Nair: 05.07.2021
  • Pratibha Nair: 29.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.