NM_005633.4:c.1490G>A

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HGVS Expressions

  • NG_007530.1:g.102526G>A
  • NM_005633.4:c.1490G>A
  • NP_005624.2:p.Arg497Gln
  • NC_000002.12:g.39022938C>T

Associated Genes

SOS RAS/RAC Guanine Nucleotide Exchange Factor 1
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

371314838

Clinvar

45348

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610733.3Saudi Arabia1Likely PathogenicNoonan Syndrome 4Monies et al. 2017
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Contributors

  • Asha Deepthi: 26.12.2024

Edit History

  • Asha Deepthi: 26.12.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.