NM_001145320.1:c.215G>A

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HGVS Expressions

  • NG_009931.1:g.10366G>A
  • NM_001145320.1:c.215G>A
  • NP_001138792.1:p.Arg72Gln
  • NC_000009.12:g.133537529G>A

Associated Genes

ADAMTS-Like Protein 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

387907064

Clinvar

30944

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231050.6Saudi Arabia2NALikely PathogenicGeleophysic Dysplasia 1Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 20.10.2021

Edit History

  • Asha Deepthi: 20.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.