NC_012920.1(MT-CO1):m.6480G>A AND Mitochondrial complex IV deficiency, nuclear type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 1998
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000010304.2

Allele description [Variation Report for NC_012920.1(MT-CO1):m.6480G>A]

NC_012920.1(MT-CO1):m.6480G>A

Gene:

MT-CO1:mitochondrially encoded cytochrome c oxidase I [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-CO1):m.6480G>A

HGVS:

NC_012920.1:m.6480G>A

Links:

OMIM: 516030.0004; dbSNP: rs199476128

NCBI 1000 Genomes Browser:

rs199476128

Condition(s)

Name:: Mitochondrial complex IV deficiency, nuclear type 1
Synonyms:: Mitochondrial complex IV deficiency; Complex 4 mitochondrial respiratory chain deficiency; Deficiency of mitochondrial respiratory chain complex4; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0700250; MedGen: C5435656; OMIM: 220110

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Microcitrus inodora voucher PI 539741 trnS-trnG intergenic spacer and tRNA-Gly (...
Microcitrus inodora voucher PI 539741 trnS-trnG intergenic spacer and tRNA-Gly (trnG) gene, partial sequence; chloroplast
gi|123330201|gb|EF176557.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030529	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030529

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1998)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD.

J Med Genet. 1998 Nov;35(11):895-900.

PubMed [citation]

PMID:: 9832034
PMCID:: PMC1051480

Details of each submission

From OMIM, SCV000030529.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Jaksch et al. (1998) identified a G-to-A transition at nucleotide 6480 of the MTCO1 gene in a child, her mother, and sister with cytochrome c oxidase deficiency (220110) associated with sensorineural hearing loss, ataxia, myoclonic epilepsy, and mental retardation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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