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

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2627

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(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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