NM_020223.4:c.957-3C>G

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HGVS Expressions

  • NG_033970.1:g.57948C>G
  • NM_020223.4:c.957-3C>G

Associated Genes

Family with Sequence Similarity 20, Member C
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Genomic Location

chr7:248312

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

796051851

Clinvar

1026

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259775.1Egypt2PathogenicRaine SyndromeAl-Gazali et al. 2003; Simpson et al. 2007
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Contributors

  • Sayeeda Hana: 09.09.2020

Edit History

  • Sayeeda Hana: 09.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.