NM_007326.4:c.394+8G>C

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  2. NM_007326.4:c.394+8G>C

HGVS Expressions

  • NG_012194.1:g.26256G>C
  • NM_007326.4:c.394+8G>C

Associated Genes

Cytochrome b5 Reductase 3
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Genomic Location

c.394+8G>C

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

200872504

Clinvar

239

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250800.2Algeria2PathogenicMethemoglobinemia due to Deficiency of Methemoglobin ReductaseVieira et al, 1995
250800.3Algeria2PathogenicMethemoglobinemia due to Deficiency of Methemoglobin ReductaseVieira et al, 1995
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Contributors

  • Pratibha Nair: 04.10.2018

Edit History

  • Pratibha Nair: 15.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.