View genomic variant #0000023209

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.9176T>C
Published as	-
GERP	-
Segregation	-
DB-ID	chrM_000058 See all 3 reported entries
MSCV	MSCV_0001441
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	RCV000010278; RCV000010279; RCV000754652; RCV001027501; RCV001542707; RCV002251425; RCV002260585;
Chromosome	M:9176..9176
ClinVar Allele ID	24683
Disease database name and identifier	MONDO:MONDO:0017917, MedGen:C4755299, Orphanet:320360\|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506\|MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380\|Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:104\|MONDO:MONDO:0010774, MedGen:C1839022, OMIM:500003\|MONDO:MONDO:0027069, MedGen:C3275684, OMIM:500015\|MedGen:C3661900
ClinVar preferred disease name	Maternally-inherited spastic paraplegia\|Leigh syndrome\|Mitochondrial disease\|Leber optic atrophy\|Striatonigral degeneration, infantile, mitochondrial\|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1\|not provided
HGVS variant names	NC 012920.1:m.9176T>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:CA120597\|Genetic Testing Registry (GTR):GTR000500595\|Genetic Testing Registry (GTR):GTR000591967\|Genetic Testing Registry (GTR):GTR000591969\|Genetic Testing Registry (GTR):GTR000591975\|Genetic Testing Registry (GTR):GTR000591976\|OMIM:516060.0005
Gene symbol:Gene id.	MT-ATP6:4508
Allele origin
dbSNP ID	199476135
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000010285; RCV000754649; RCV001542708; RCV001543462; RCV002221473;
Chromosome M:9176..9176
ClinVar Allele ID 24689
Disease database name and identifier MONDO:MONDO:0027069, MedGen:C3275684, OMIM:500015|MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380|MedGen:C3661900|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 Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1|Mitochondrial disease|not provided|Leber optic atrophy|Leigh syndrome
HGVS variant names NC 012920.1:m.9176T>G
ClinVar review status reviewed by expert panel
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA340929|Genetic Testing Registry (GTR):GTR000500595|Genetic Testing Registry (GTR):GTR000591967|Genetic Testing Registry (GTR):GTR000591969|Genetic Testing Registry (GTR):GTR000591975|Genetic Testing Registry (GTR):GTR000591976|OMIM:516060.0011
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 199476135
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-ATP6	FBSN/Leigh Disease	T9176C	L-P	+	+	Cfrm	Coding_and_Control_Region
MT-ATP6	Leigh Disease/Spastic Paraplegia	T9176G	L-R	-	+	Cfrm	Coding_and_Control_Region

Ensembl Variant Phenotype Information:

None