NM_152281.3:c.658G>C

HGVS Expressions

  • NG_012237.1:g.17720G>C
  • NM_152281.3:c.658G>C
  • NP_689494.3:p.Ala220Pro

Associated Genes

Golgin, RAB6-Interacting
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Genomic Location

chr1:170544841

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

218115

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231070.1.1Saudi Arabia2PathogenicGeroderma OsteodysplasticumAl-Dosari and Alkuraya, 2009 Family belongs to the Southern province ...
231070.1.2Saudi Arabia2PathogenicGeroderma OsteodysplasticumAl-Dosari and Alkuraya, 2009 Brother of 231070.1.1
231070.9.1Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018
231070.9.2Saudi Arabia2NAPathogenicGeroderma OsteodysplasticumMaddirevula et al. 2018 Relative of 231070.9.1
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