NM_014382.4:c.361-1G>A

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  2. NM_014382.4:c.361-1G>A

HGVS Expressions

  • NG_007379.2:g.95107G>A
  • NM_014382.4:c.361-1G>A

Associated Genes

ATPase, Ca(2+)-Transporting, Type 2C, Member 1
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Genomic Location

chr3:130940630

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
169600.2Lebanon1PathogenicBenign Chronic PemphigusBtadini et al. 2015
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Contributors

  • Pratibha Nair: 22.06.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 22.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.