NM_207352.3:c.1372G>A

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  2. NM_207352.3:c.1372G>A

HGVS Expressions

  • NG_007965.1:g.22720G>A
  • NM_207352.3:c.1372G>A
  • NP_997235.3:p.Val458Met
  • NC_000004.12:g.186209239G>A

Associated Genes

Cytochrome P450 Family 4 Subfamily V Member 2
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Variant Type

Substitution

dbSNP

202204817

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210370.1.1Lebanon2Bietti Crystalline Corneoretinal DystrophyHaddad et al., 2012 F1:II-1
210370.1.2Lebanon2Bietti Crystalline Corneoretinal DystrophyHaddad et al., 2012 Sister of 210370.1.1 (F1:II-2)
210370.1.3Lebanon1Haddad et al., 2012 Father of 210370.1.1
210370.1.4Lebanon1Haddad et al., 2012 Mother of 210370.1.1
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Contributors

  • Asha Deepthi: 28.05.2019

Edit History

  • Precise Support: 08.11.2022
  • Sami Bizzari: 12.09.2022
  • Asha Deepthi: 28.05.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.