NM_000492.3:c.3909C>G

HGVS Expressions

  • NG_016465.4:g.192094C>G
  • NM_000492.3:c.3909C>G
  • NP_000483.3:p.Asn1303Lys
  • NC_000007.14:g.117652877C>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7136

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.3Bahrain2NAPathogenicCystic FibrosisEskandarani, 2002
219700.4Egypt2NAPathogenicCystic FibrosisWahab et al. 2004a Patient presented with Pseudo Bartter's ...
219700.7Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.12Lebanon2NAPathogenicCystic FibrosisDesgeorges et al. 1997 Patient from family '259' in the publica...
219700.24Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.41Palestine1NAPathogenicCystic FibrosisShoshani et al. 1994 Compound heterozygous patient of Arab or...
219700.51United Arab Emirates2NAPathogenicCystic FibrosisDawson and Frossard, 1999
219700.56Saudi Arabia1NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF30' in the publication...
219700.57Saudi Arabia1NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF32' in the publication...
219700.66Saudi Arabia2NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF19' in the publication
219700.G.6.7Tunisia20NAPathogenicCystic FibrosisMessaoud et al. 2005 10 patients from unrelated families
219700.G.6.8Tunisia12NAPathogenicCystic FibrosisMessaoud et al. 2005 12 patients from unrelated families
219700.G.12Lebanon8NAPathogenicCystic FibrosisFarhat et al, 2015 Patients from 7 Lebanese families. c.390...
219700.G.13.2Lebanon120.2PathogenicCystic FibrosisFarra et al, 2010 Mutation identified in 27% of 44 alleles...
219700.G.14.5United Arab EmiratesNANAPathogenicCystic FibrosisShafiq et al.2021 Mutations reported with a population fre...
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