NM_024422.4:c.712_714delGAT

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HGVS Expressions

  • NG_008208.2:g.19694_19696delGAT
  • NM_024422.4:c.712_714delGAT
  • NP_077740.1:p.Asp238del

Associated Genes

Desmocollin-2
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Genomic Location

chr18:31087732-31087734

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

765560490

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610476.1.1Lebanon2Likely PathogenicArrhythmogenic Right Ventricular Dysplasia, Familial, 11 Al-Sabeq et al, 2014 Proband
610476.1.2Lebanon1Likely PathogenicAl-Sabeq et al, 2014 Unaffected brother of 610476.1.1
610476.1.3Lebanon1Likely PathogenicAl-Sabeq et al, 2014 Unaffected brother of 610476.1.1
610476.1.4Lebanon1Likely PathogenicAl-Sabeq et al, 2014 Unaffected father of 610476.1.1
610476.1.5Lebanon1Likely PathogenicAl-Sabeq et al, 2014 Unaffected mother of 610476.1.1
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Contributors

  • Sayeeda Hana: 15.07.2019

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 26.09.2020
  • Sayeeda Hana: 15.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.