NM_148960.3:c.241C>T

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HGVS Expressions

  • NG_008993.1:g.6687C>T
  • NM_148960.3:c.241C>T
  • NP_001172046.1:p.Arg81Trp
  • NC_000001.11:g.42738568G>A

Associated Genes

Claudin 19
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1450421453

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248190.1.1United Arab Emirates2Likely PathogenicHypomagnesemia 5, Renal, with or without Ocular InvolvementAl-Shibli et al. 2013
248190.1.2United Arab Emirates2Likely PathogenicHypomagnesemia 5, Renal, with or without Ocular InvolvementAl-Shibli et al. 2013 Sister of 248190.1.1
248190.1.3United Arab Emirates2Likely PathogenicHypomagnesemia 5, Renal, with or without Ocular InvolvementAl-Shibli et al. 2013 Cousin of 248190.1.1
248190.1.4United Arab Emirates1Al-Shibli et al. 2013 Father of 248190.1.1
248190.1.5United Arab Emirates1Al-Shibli et al. 2013 Mother of 248190.1.1
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Contributors

  • Sayeeda Hana: 13.07.2021

Edit History

  • Pratibha Nair: 02.01.2023
  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 13.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.