NM_005912.3:c.485C>T

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HGVS Expressions

  • NG_016441.1:g.5904C>T
  • NM_005912.3:c.485C>T
  • NP_005903.2:p.Thr162Ile
  • NC_000018.10:g.60371865G>A

Associated Genes

Melanocortin 4 Receptor
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1555691402

Clinvar

499550

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618406.1United Arab Emirates2PathogenicBody Mass Index Quantitative Trait Locus 20Ben-Rebeh et al. 2012
601665.G.4United Arab Emirates4PathogenicObesityAl-Shamsi et al. 2014 2 Emirati patients
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Contributors

  • Sayeeda Hana: 09.06.2021

Edit History

  • Asha Deepthi: 07.12.2022
  • Sayeeda Hana: 23.09.2021
  • Sayeeda Hana: 09.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.