NM_000218.2:c.1251+1G>T

HGVS Expressions

  • NG_008935.1:g.147703G>T
  • NM_000218.2:c.1251+1G>T
  • NC_000011.10:g.2587693G>T
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220400.1.1Saudi Arabia1NAUncertain SignificanceJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2014; Al-Aama et al. 2015 Proband [also included in Al-Aama JY et ...
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