NM_004560.4:c.1970G>A

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HGVS Expressions

  • NG_008089.1:g.230639G>A
  • NM_004560.4:c.1970G>A
  • NP_004551.2:p.Arg657His
  • NC_000009.12:g.91724524C>T

Associated Genes

Receptor Tyrosine Kinase-Like Orphan Receptor 2
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

529829552

Clinvar

159813

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268310.2.1Yemen2NALikely PathogenicRobinow Syndrome, Autosomal RecessiveMaddirevula et al. 2018
268310.2.2Yemen2NALikely PathogenicRobinow Syndrome, Autosomal RecessiveMaddirevula et al. 2018 Relative of 268310.2.1
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Contributors

  • Asha Deepthi: 14.02.2022

Edit History

  • Asha Deepthi: 14.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.