NM_000218.3:c.1484_1485CT[1]

HGVS Expressions

  • NG_008935.1:g.222061_222062CT[1]
  • NM_000218.3:c.1484_1485CT[1]
  • NP_861463.1:p.Leu369fs
  • NC_000011.10:g.2662051_2662052CT[1]
Back to search Result
Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic, Uncertain Significance

Variant Type

Deletion

Clinvar

52983

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220400.4.1Saudi Arabia2NAPathogenicJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2015 Proband from 'Family C' in the publicati...
220400.4.2Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Father of 220400.4.1, minor QTc prolonga...
220400.4.3Saudi Arabia1NAAl-Aama et al. 2015 Mother of 220400.4.1
220400.4.4Saudi Arabia1NAAl-Aama et al. 2015 Brother of 220400.4.1
220400.4.5Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Sister of 220400.4.1, minor QTc prolonga...
© CAGS 2024. All rights reserved.