NM_020223.4:c.1225C>T

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HGVS Expressions

  • NG_033970.1:g.65637C>T
  • NM_020223.4:c.1225C>T
  • NP_064608.2:p.Arg409Cys
  • NC_000007.14:g.256001C>T

Associated Genes

Family with Sequence Similarity 20, Member C
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882220

Clinvar

183311

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259775.2Saudi Arabia2NALikely PathogenicRaine SyndromeMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 18.11.2021

Edit History

  • Asha Deepthi: 18.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.