NM_139248.2:c.179C>G

HGVS Expressions

  • NG_012183.1:g.22579C>G
  • NM_139248.2:c.179C>G
  • NP_640341.1:p.Ser60Ter
  • NC_000003.12:g.185535003G>C

Associated Genes

Lipase H
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604379.1.1Lebanon2PathogenicHypotrichosis 7 Sleiman et al, 2015 Proband
604379.1.2Lebanon2PathogenicHypotrichosis 7 Sleiman et al, 2015 Brother of 604379.1.1
604379.1.3Lebanon2PathogenicHypotrichosis 7 Sleiman et al, 2015 Cousin of 604379.1.1
604379.1.4Lebanon2PathogenicHypotrichosis 7 Sleiman et al, 2015 Paternal aunt of 604379.1.1
© CAGS 2024. All rights reserved.