NM_205834.4:c.560A>G

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HGVS Expressions

  • NM_205834.4:c.560A>G
  • NP_001247418.2:p.Glu187Gly
  • NC_000019.10:g.35259050A>G

Associated Genes

Lipolysis-Stimulated Lipoprotein Receptor
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2145516157

Clinvar

1329851

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
211600.2Saudi Arabia2Likely PathogenicCholestasis, Progressive Familial Intrahepatic, 1Maddirevula et al. 2019
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Contributors

  • Sayeeda Hana: 19.07.2024

Edit History

  • Sayeeda Hana: 19.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.