NM_005853.6:c.503G>A

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  2. NM_005853.6:c.503G>A

HGVS Expressions

  • NG_032773.1:g.6553G>A
  • NM_005853.6:c.503G>A
  • NP_005844.4:p.Arg168His
  • NC_000016.10:g.54932751G>A

Associated Genes

Iroquois Homeobox Protein 5
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2142353982

Clinvar

1695336

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611174.1.1Lebanon2Likely PathogenicHamamy SyndromeMégarbané et al. 2021
611174.1.2Lebanon2Likely PathogenicHamamy SyndromeMégarbané et al. 2021 First cousin once removed of 611174.1.1 ...
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Contributors

  • Pratibha Nair: 13.03.2023

Edit History

  • Pratibha Nair: 13.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.