NM_152281.3:c.231dup

HGVS Expressions

  • NG_012237.1:g.12258dup
  • NM_152281.3:c.231dup
  • NP_689494.3:p.Pro78fs

Associated Genes

Golgin, RAB6-Interacting
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Genomic Location

chr1:170539375-170539379

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

800784

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231070.2.1Saudi Arabia2PathogenicGeroderma OsteodysplasticumAl-Dosari and Alkuraya, 2009 Family originates from the Central provi...
231070.2.2Saudi Arabia2PathogenicGeroderma OsteodysplasticumAl-Dosari and Alkuraya, 2009 Cousin of 231070.2.1
231070.3.1Saudi Arabia2PathogenicGeroderma OsteodysplasticumAl-Dosari and Alkuraya, 2009 Family originates from the Central provi...
231070.3.2Saudi Arabia2PathogenicGeroderma OsteodysplasticumAl-Dosari and Alkuraya, 2009 Sister of 231070.3.1
231070.4Saudi Arabia2PathogenicGeroderma OsteodysplasticumAl-Dosari and Alkuraya, 2009 Patient originates from the Central prov...
231070.5Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018
231070.6.1Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018
231070.6.2Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018 Relative of 231070.6.1
231070.7Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018
231070.8Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018
231070.10Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018
231070.11.1Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018
231070.11.2Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018 Relative of 231070.11.1
231070.G.1Saudi Arabia8NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018 Four related patients
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