NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT

HGVS Expressions

  • NG_008112.1:g.5010_75623delinsCTGTACTTTCTCAGTTCACT
  • NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT
  • NP_001032722.1:p.?
  • NC_000005.10:g.139127754_139198367delinsAGTGAACTGAGAAAGTACAG
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248800.3.1United Arab Emirates2Likely PathogenicMarinesco-Sjogren SyndromeNair et al. 2016
248800.3.2United Arab Emirates1Nair et al. 2016 Father of 248800.3.1
248800.3.3United Arab Emirates1Nair et al. 2016 Mother of 248800.3.1
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