NM_000053.3:c.1216T>G

HGVS Expressions

  • NG_008806.1:g.42491T>G
  • NM_000053.3:c.1216T>G
  • NP_000044.2:p.Ser406Ala
  • NC_000013.11:g.51974004A>C
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

1801243

Clinvar

35701

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.30.1Lebanon2Likely BenignBarada et al, 2007 Sibling of 277900.29.2, 277900.29.3, 277...
277900.30.2Lebanon2Likely BenignBarada et al, 2007 Detected by screening
277900.30.3Lebanon2Likely BenignBarada et al, 2007 Detected by screening
277900.30.4Lebanon2Likely BenignBarada et al, 2007 Detected by screening
277900.30.5Lebanon2Likely BenignBarada et al, 2007 First cousin once removed of 277900.29.1...
277900.30.6Lebanon1Likely BenignBarada et al, 2007
277900.30.7Lebanon1Likely BenignBarada et al, 2007
277900.30.8Lebanon1Likely BenignBarada et al, 2007
277900.30.9Lebanon1Likely BenignBarada et al, 2007 Mother of 277900.29.1, 277900.29.2, 2779...
277900.30.10Lebanon1Likely BenignBarada et al, 2007 Father of 277900.29.1, 277900.29.2, 2779...
277900.G.17OmanLikely BenignAl-Tobi et al. 2011 14 patients in a large family with Wilso...
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