NM_020780.2:c.3555C>T

HGVS Expressions

  • NM_020780.2:c.3555C>T
  • NP_065831.1:p.Cys1185=
  • NC_000001.11:g.11535030C>T
Back to search Result
CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611251.1.1Jordan2Uncertain SignificanceIntellectual Deficiency, Autosomal Recessive, UnclassifiedFroukh. 2017
611251.1.2Jordan2Uncertain SignificanceIntellectual Deficiency, Autosomal Recessive, UnclassifiedFroukh. 2017 Sibling of 611251.1.1
611251.1.3Jordan2Uncertain SignificanceIntellectual Deficiency, Autosomal Recessive, UnclassifiedFroukh. 2017 Sibling of 611251.1.1
© CAGS 2024. All rights reserved.