NM_004004.5:c.35del

HGVS Expressions

  • NG_008358.1:g.8429del
  • NM_004004.5:c.35del
  • NP_003995.2:p.Gly12ValfsTer2
  • NC_000013.11:g.20189552del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

17004

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.3Palestine1NAPathogenicDeafness, Autosomal Recessive 1AShahin et al. 2002
220290.4Egypt1NAPathogenicDeafness, Autosomal Recessive 1ASnoeckx et al. 2005
220290.5Egypt1NAPathogenicDeafness, Autosomal Recessive 1ASnoeckx et al. 2005
220290.7Egypt1NAPathogenicDeafness, Autosomal Recessive 1ASnoeckx et al. 2005
220290.G.1Jordan22NAPathogenicDeafness, Autosomal Recessive 1AMedlej-Hashim et al. 2002 11 patients from 68 unrelated consanguin...
220290.G.2.1Palestine10NAPathogenicDeafness, Autosomal Recessive 1AShahin et al. 2002 Group of 5 patients
220290.G.3.1Tunisia20+NAPathogenicDeafness, Autosomal Recessive 1AMasmoudi et al. 2000 Unknown number of patients from 10 famil...
220290.G.3.3Tunisia1NAPathogenicDeafness, Autosomal Recessive 1AMasmoudi et al. 2000 Unknown number of patients from a Tunisi...
220290.G.4.1Algeria30+NAPathogenicDeafness, Autosomal Recessive 1AAmmar-Khodja et al. 2009 Unknown number of patients from 15 famil...
220290.G.4.3Algeria1NAPathogenicDeafness, Autosomal Recessive 1AAmmar-Khodja et al. 2009 Unknown number of patients from an Alger...
220290.G.4.4Algeria2NAPathogenicDeafness, Autosomal Recessive 1AAmmar-Khodja et al. 2009 Unknown number of patients from 2 famili...
220290.G.4.7Algeria3NAPathogenicDeafness, Autosomal Recessive 1AAmmar-Khodja et al. 2009 Unknown number of patients from 3 famili...
220290.G.5.1Algeria1Likely PathogenicDeafness, Autosomal Recessive 1ADenoyelle et al. 1997 Unknown number of patients from family '...
220290.G.5.2Lebanon2PathogenicDeafness, Autosomal Recessive 1ADenoyelle et al. 1997 Unknown number of patients from family '...
220290.G.5.3Lebanon10PathogenicDeafness, Autosomal Recessive 1ADenoyelle et al. 1997 5 patients from family 'LH' in the publi...
220290.G.5.4Tunisia2PathogenicDeafness, Autosomal Recessive 1ADenoyelle et al. 1997 Unknown number of patients from 4 famili...
220290.G.6.1Egypt20NAPathogenicDeafness, Autosomal Recessive 1ASnoeckx et al. 2005 10 patients from 10 Egyptian families
220290.G.6.2Egypt3NAPathogenicDeafness, Autosomal Recessive 1ASnoeckx et al. 2005 3 patients from the same family
220290.G.7.1Palestine2NAPathogenicDeafness, Autosomal Recessive 1ACarrasquillo et al. 1997 Unknown number of patients in a group of...
220290.G.7.3Palestine1NAPathogenicDeafness, Autosomal Recessive 1ACarrasquillo et al. 1997 Unknown number of compound heterozygous ...
220290.G.8.1Lebanon30+PathogenicDeafness, Autosomal Recessive 1AMustapha et al, 2001 15 families with at least one affected i...
220290.G.8.2Lebanon7Mustapha et al, 2001 300 control subjects
220290.G.9.1United Arab Emirates12PathogenicDeafness, Autosomal Recessive 1ATlili et al. 2017; Elsayed O and Al-Shamsi A. 2022 6 unrelated patients
220290.G.9.2United Arab Emirates2PathogenicDeafness, Autosomal Recessive 1ATlili et al. 2017 2 unrelated patients
220290.G.10.1Lebanon18PathogenicDeafness, Autosomal Recessive 1ABelguith et al. 2005 9 lebanese patients
220290.G.10.2Tunisia32PathogenicDeafness, Autosomal Recessive 1ABelguith et al. 2005 16 Tunisian patients
220290.G.10.3Morocco12PathogenicDeafness, Autosomal Recessive 1ABelguith et al. 2005 6 Moroccan patients
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