View genomic variant #0000036539

Chromosome	1
Allele	Unknown
Affects function (as reported)	Not classified
Affects function (by curator)	Not classified
Type	-
DNA change (genomic) (Relative to hg19 / GRCh37)	g.29528516C>T
Published as	-
GERP	-
Segregation	-
DB-ID	chr1_000271
MSCV	-
dbSNP ID	-
Frequency	-
Sources	;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Retrieve
Owner	Lishuang Shen

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	RCV000415570; RCV000519749; RCV000755156; RCV003314592;
Chromosome	1:29528516..29528516
Allele frequencies from ExAC	0.00004
ClinVar Allele ID	361783
Disease database name and identifier	Human Phenotype Ontology:HP:0000648, Human Phenotype Ontology:HP:0007751, Human Phenotype Ontology:HP:0007855, MONDO:MONDO:0003608, MedGen:C0029124\|MedGen:C0752202\|MONDO:MONDO:0015003, MedGen:C4310634, OMIM:617282, Orphanet:508093\|MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380\|MedGen:C3661900
ClinVar preferred disease name	Optic atrophy\|Childhood Onset Dystonias\|Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities\|Mitochondrial disease\|not provided
HGVS variant names	NC 000001.10:g.29528516C>T
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Pathogenic/Likely pathogenic
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA725727\|OMIM:608205.0001
Gene symbol:Gene id.	MECR:51102
Molecular consequence	SO:0001583\|missense variant, SO:0001619\|non-coding transcript variant
Allele origin	germline
dbSNP ID	762913101
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None