NM_014630.2:c.3136G>A

HGVS Expressions

  • NG_028094.1:g.55623G>A
  • NM_014630.2:c.3136G>A
  • NP_055445.2:p.Gly1046Arg
  • NC_000015.10:g.84799209G>A

Associated Genes

Zinc Finger Protein 592
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

4

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251300.1.1Lebanon2Likely PathogenicGalloway-Mowat Syndrome 1Megarbane et al. 2001; Vodopiutz et al, 2015; Nicolas et al, 2010; Delague et al, 2002 Exhibited 2 distinct homozygous mutation...
251300.1.2Lebanon2Likely PathogenicGalloway-Mowat Syndrome 1Vodopiutz et al, 2015; Nicolas et al, 2010 Sibling of 251300.1.1
251300.1.3Lebanon2Likely PathogenicGalloway-Mowat Syndrome 1Vodopiutz et al, 2015; Nicolas et al, 2010 Distant cousin of 251300.1.1
251300.1.4Lebanon2Likely PathogenicGalloway-Mowat Syndrome 1Vodopiutz et al, 2015; Nicolas et al, 2010 Distant cousin of 251300.1.1
251300.1.5Lebanon2Likely PathogenicGalloway-Mowat Syndrome 1Vodopiutz et al, 2015; Nicolas et al, 2010 Distant cousin of 251300.1.1
251300.1.6Lebanon1Likely PathogenicVodopiutz et al, 2015; Nicolas et al, 2010 Father of 251300.1.1
251300.1.7Lebanon1Likely PathogenicVodopiutz et al, 2015; Nicolas et al, 2010 Mother of 251300.1.1
251300.1.8Lebanon1Likely PathogenicVodopiutz et al, 2015; Nicolas et al, 2010 Mother of 251300.1.3
251300.1.9Lebanon1Likely PathogenicVodopiutz et al, 2015; Nicolas et al, 2010 Father of 251300.1.3
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