NM_014846.4:c.2849A>G

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HGVS Expressions

  • NG_012636.1:g.52994A>G
  • NM_014846.4:c.2849A>G
  • NP_055661.3:p.Lys950Arg
  • NC_000008.11:g.125043826T>C

Associated Genes

Wash Complex, Subunit 5
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1815967070

Clinvar

1030375

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220210.1.1Saudi Arabia2Likely PathogenicRitscher-Schinzel Syndrome 1Maddirevula et al. 2020
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Contributors

  • Sayeeda Hana: 21.11.2022

Edit History

  • Sayeeda Hana: 28.12.2022
  • Sayeeda Hana: 21.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.