NM_001304504.2:c.694C>G

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  2. NM_001304504.2:c.694C>G

HGVS Expressions

  • NM_001304504.2:c.694C>G
  • NP_001291433.1:p.Arg232Gly
  • NC_000015.10:g.77478297C>G

Associated Genes

High Mobility Group Protein 20A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1483602497

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605534.G.1SyriaLikely PathogenicReuter et al. 2017 Authors classified this gene variant as ...
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Contributors

  • Sayeeda Hana: 03.10.2024

Edit History

  • Sayeeda Hana: 29.10.2024
  • Sayeeda Hana: 03.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.