NM_006783.4:c.31G>C

HGVS Expressions

  • NG_008323.1:g.13946G>C
  • NM_006783.4:c.31G>C
  • NP_006774.2:p.Gly11Arg
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Genomic Location

chr13:20223450

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5544

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
129500.1.1Lebanon1PathogenicClouston SyndromeFujimoto et al, 2013 Lebanese German family
129500.1.2Lebanon1PathogenicClouston SyndromeFujimoto et al, 2013 Sibling of 129500.1.1
129500.1.3Lebanon1PathogenicClouston SyndromeFujimoto et al, 2013 Sibling of 129500.1.1
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