NM_022464.5:c.1312C>T

HGVS Expressions

  • NG_008112.2:g.256186C>T
  • NM_022464.5:c.1312C>T
  • NP_071909.1:p.Gln438Ter
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Genomic Location

chr5:138947191

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2627

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248800.2.1Egypt2PathogenicMarinesco-Sjogren SyndromeKarim et al. 2006 Proband
248800.2.2Egypt2PathogenicMarinesco-Sjogren SyndromeKarim et al. 2006 Sister of 248800.2.1
248800.2.3Egypt2PathogenicMarinesco-Sjogren SyndromeKarim et al. 2006 Maternal uncle of 248800.2.1
248800.2.4Egypt2PathogenicMarinesco-Sjogren SyndromeKarim et al. 2006 Maternal aunt of 248800.2.1
248800.2.5Egypt1Karim et al. 2006 Mother of 248800.2.1
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