NM_021973.3:c.605G>T

HGVS Expressions

  • NG_046954.1:g.7902G>T
  • NM_021973.3:c.605G>T
  • NP_068808.1:p.Gly202Val
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Genomic Location

chr4:173527326

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602407.1.1Lebanon1Likely PathogenicTetralogy of FallotKhalil et al. 2017 Member of a large family with various f...
602407.1.2Lebanon1Likely PathogenicCoarctation of AortaKhalil et al. 2017 Sibling of 602407.1.1. Member of a larg...
602407.1.3Lebanon1Likely PathogenicTetralogy of FallotKhalil et al. 2017 Son of 602407.1.2. Member of a large fa...
602407.1.4Lebanon1Likely PathogenicTetralogy of FallotKhalil et al. 2017 First cousin of 602407.1.1. Member of a...
602407.1.5Lebanon1Likely PathogenicCoarctation of AortaKhalil et al. 2017 First cousin of 602407.1.1. Member of a...
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