NM_152522.7:c.192G>A

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  2. NM_152522.7:c.192G>A

HGVS Expressions

  • NG_053091.1:g.6124G>A
  • NM_152522.7:c.192G>A
  • NP_689735.1:p.Trp64Ter
  • NC_000002.12:g.152718816G>A

Associated Genes

ADP-Ribosylation Factor-Like Gtpase 6-Interacting Protein 6
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

867616255

Clinvar

372265

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219250.1Saudi Arabia2NAUncertain SignificanceCutis Marmorata Telangiectatica CongenitaAbumansour et al. 2015 This patient has another homozygous vari...
219250.1.GSaudi Arabia4NAAbumansour et al. 2015 Relatives of 219250.1 (parents + two una...
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Contributors

  • Asha Deepthi: 09.11.2022

Edit History

  • Asha Deepthi: 09.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.