NM_001171155.2:c.3G>C

HGVS Expressions

  • NG_034117.1:g.5052G>C
  • NM_001171155.2:c.3G>C
  • NP_001164626.1:p.Met1Ile
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Genomic Location

chr19:7629836

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

125441

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619055.1.1Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Lim et al, 2014
619055.1.2Lebanon1PathogenicLim et al, 2014 Unaffected father of 619055.1.1
619055.1.3Lebanon1PathogenicLim et al, 2014 Unaffected mother of 619055.1.1
619055.2.1Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Lim et al, 2014 The patient had four older siblings that...
619055.2.2Lebanon1PathogenicLim et al, 2014 Unaffected father of 619055.2.1
619055.2.3Lebanon1PathogenicLim et al, 2014 Unaffected mother of 619055.2.1
619055.3.1Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Lim et al, 2014 The patient had an older brother suggest...
619055.3.2Lebanon1PathogenicLim et al, 2014 Unaffected father of 619055.3.1
619055.3.3Lebanon1PathogenicLim et al, 2014 Unaffected mother of 619055.3.1
619055.4.1Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Lim et al, 2014
619055.4.2Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Lim et al, 2014 Brother of 619055.4.1
619055.4.3Lebanon1PathogenicLim et al, 2014 Unaffected father of 619055.4.1
619055.4.4Lebanon1PathogenicLim et al, 2014 Unaffected mother of 619055.4.1
619055.5.1Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Lim et al, 2014
619055.5.2Lebanon2PathogenicLim et al, 2014 Brother of 619055.5.1
619055.5.3Lebanon1PathogenicLim et al, 2014 Unaffected father of 619055.5.1
619055.5.4Lebanon1PathogenicLim et al, 2014 Unaffected mother of 619055.4.1
619055.6.1Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Lim et al, 2014
619055.6.2Lebanon1PathogenicLim et al, 2014 Unaffected father of 619055.6.1
619055.6.3Lebanon1PathogenicLim et al, 2014 Unaffected mother of 619055.6.1
619055.7.1Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Lim et al, 2014
619055.7.2Lebanon1PathogenicLim et al, 2014 Unaffected father of 619055.7.1
619055.7.3Lebanon1PathogenicLim et al, 2014 Unaffected mother of 619055.7.1
619055.8.1Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Lim et al, 2014
619055.8.2Lebanon1PathogenicLim et al, 2014 Unaffected father of 619055.8.1
619055.8.3Lebanon1PathogenicLim et al, 2014 Unaffected mother of 619055.8.1
619055.9Lebanon1Likely PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Jalkh et al. 2019
619055.10.1Lebanon2NAPathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Mansour et al, 2019 Proband from 'Family A' in the publicati...
619055.10.2Lebanon2NAPathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Mansour et al, 2019 Brother of proband ('Family A' in the pu...
619055.10.3Lebanon1NAMansour et al, 2019 Father of proband ('Family A' in the pub...
619055.10.4Lebanon1NAMansour et al, 2019 Mother of proband ('Family A' in the pub...
619055.11.1Lebanon2NAPathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Mansour et al, 2019 Proband from 'Family B' in the publicati...
619055.11.2Lebanon2NAPathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Mansour et al, 2019 Brother of proband ('Family B' in the pu...
619055.11.3Lebanon1NAMansour et al, 2019 Father of proband ('Family B' in the pub...
619055.11.4Lebanon1NAMansour et al, 2019 Mother of proband ('Family B' in the pub...
619055.12Lebanon2PathogenicMitochondrial Complex IV Deficiency, Nuclear Type 12Riley et al. 2020 Proband. Parents are first cousins. A pa...
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