View genomic variant #0000023339

Chromosome	M
Allele	Unknown
Affects function (as reported)	Affects function
Affects function (by curator)	Affects function
Type	-
DNA change (genomic) (Relative to hg19 / GRCh37)	m.14487T>C
Published as	-
GERP	-
Segregation	-
DB-ID	chrM_000034 See all 2 reported entries
MSCV	MSCV_0001497
dbSNP ID	-
Frequency	-
Sources	; clinvar;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Variant not found in online data sets
Owner	LOVD

Variant on transcripts

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Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

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Gene	Transcript ID	Transcript	Variant ID	Affects function

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ClinVar @ MSeqDR
RCVaccession	RCV000010333; RCV000010334; RCV000144020; RCV002247307; RCV003162239;
Chromosome	M:14487..14487
ClinVar Allele ID	24733
Disease database name and identifier	MedGen:C1838951\|MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380\|MedGen:C1838954\|Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name	Leigh syndrome due to mitochondrial complex I deficiency\|Mitochondrial disease\|Striatal necrosis, bilateral, with dystonia\|Leber optic atrophy\|Leigh syndrome
HGVS variant names	NC 012920.1:m.14487T>C
ClinVar review status	reviewed by expert panel
Clinical Significance	Pathogenic
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA120627\|Genetic Testing Registry (GTR):GTR000591967\|Genetic Testing Registry (GTR):GTR000591975\|Genetic Testing Registry (GTR):GTR000591976\|OMIM:516006.0007
Gene symbol:Gene id.	MT-ND6:4541
Allele origin	germline
dbSNP ID	199476109
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

Locus	Disease	Allele	Amino_Acid_Change	Homoplasmy	Heteroplasmy	STATUS	Note
MT-ND6	Dystonia/Leigh Disease/Ataxia	T14487C	M-V	-	+	Cfrm	Coding_and_Control_Region

Ensembl Variant Phenotype Information:

None