NM_005221.6:c.533A>C

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HGVS Expressions

  • NG_009220.1:g.7640A>C
  • NM_005221.6:c.533A>C
  • NP_005212.1:p.Gln178Pro
  • NC_000007.14:g.97022192T>G

Associated Genes

Distal-Less Homeobox 5
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

387906737

Clinvar

30021

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220600.1.1Yemen2NAPathogenicSplit-Hand/Foot Malformation 1 with Sensorineural Hearing Loss, Autosomal RecessiveMaddirevula et al. 2018
220600.1.2Yemen2NAPathogenicSplit-Hand/Foot Malformation 1 with Sensorineural Hearing Loss, Autosomal RecessiveMaddirevula et al. 2018 Relative of 220600.1.1
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Contributors

  • Asha Deepthi: 11.11.2021

Edit History

  • Asha Deepthi: 11.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.