NM_005633.3:c.1297G>A

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HGVS Expressions

  • NG_007530.1:g.102333G>A
  • NM_005633.3:c.1297G>A
  • NP_005624.2:p.Glu433Lys
  • NC_000002.12:g.39023131C>T

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397517147

Clinvar

40669

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
SOS1.1United Arab Emirates1Likely PathogenicSOS1-related bone marrow dysplasia*Monies et al. 2019 Previously unreported genotype-phenotype...
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Contributors

  • Sami Bizzari: 21.11.2023

Edit History

  • Sami Bizzari: 21.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.