NM_000492.4:c.1520_1522del

HGVS Expressions

  • NG_016465.4:g.98809_98811del
  • NM_000492.4:c.1520_1522del
  • NP_000483.3:p.Phe508del
  • NC_000007.14:g.117559592_117559594del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Deletion

Clinvar

7105

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.6Lebanon2NAPathogenicCystic FibrosisDesgeorges et al. 1997 Patient from family '245' in the publica...
219700.7Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.8Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.16Lebanon2NAPathogenicCystic FibrosisDesgeorges et al. 1997 Patient from family '274' in the publica...
219700.17Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.19Lebanon2NAPathogenicCystic FibrosisDesgeorges et al. 1997 Patient from family '286' in the publica...
219700.21Lebanon2NAPathogenicCystic FibrosisDesgeorges et al. 1997 Patient from family '289' in the publica...
219700.22Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Patient from family '290' in the publica...
219700.23Lebanon2NAPathogenicCystic FibrosisDesgeorges et al. 1997 Patient from family 'A1' in the publicat...
219700.44Syria2NAPathogenicCystic FibrosisWahab et al. 2002
277180.1Kuwait1NAUncertain SignificanceVas Deferens, Congenital Bilateral Aplasia ofLissens et al. 1999
219700.G.1.3Bahrain6NAPathogenicCystic FibrosisEskandarani, 2002 3 patients from a family of Persian orig...
219700.G.2.1KuwaitNANALikely PathogenicCystic FibrosisSamilchuk, 2005 Unknown number of patients
219700.G.3.2Oman4NAPathogenicCystic FibrosisFrossard et al. 2000a 2 unrelated patients of Baluch descent
219700.G.6.1Tunisia230NAPathogenicCystic FibrosisMessaoud et al. 2005 115 patients from unrelated families
219700.G.6.2Tunisia44NALikely PathogenicCystic FibrosisMessaoud et al. 2005 44 patients from unrelated families
219700.G.7.2United Arab EmiratesNANALikely PathogenicCystic FibrosisFrossard et al. 1998 Unknown number of patients from 4 Emirat...
219700.G.8.2United Arab Emirates2NAFrossard et al. 1999 2 unaffected carriers in a sample popula...
219700.G.11.1JordanNANALikely PathogenicCystic FibrosisKakish, 2001 Unknown number of individuals from the s...
219700.G.13.1Lebanon150.363PathogenicCystic FibrosisFarra et al, 2010 Mutation identified in 34% of 44 alleles...
219700.G.14.2United Arab Emirates17NAPathogenicCystic FibrosisShafiq et al.2021 9 patients (8 homozygous and 1 heterozyg...
277180.G.1.1KuwaitNANALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofSamilchuk, 2005 Unknown number of patients with CBAVD
277180.G.3.1Egypt12NALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofHussein et al. 2011 12 out of 30 patients with CBAVD
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