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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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