NM_002437.5:c.278A>C

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  2. NM_002437.5:c.278A>C

HGVS Expressions

  • NG_008075.1:g.14884A>T
  • NM_002437.5:c.278A>C
  • NP_002428.1:p.Gln93Leu
  • NC_000002.12:g.27312681T>G

Associated Genes

Mitochondrial Inner Membrane Protein MPV17
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

200938111

Clinvar

694362

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256810.1Syria2Likely PathogenicMitochondrial DNA Depletion Syndrome 6 (Hepatocerebral Type)Ben-Rebeh et al. 2012
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Contributors

  • Sayeeda Hana: 01.06.2021

Edit History

  • Sayeeda Hana: 01.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.