View genomic variant #0000036540

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.29529743del
Published as -
Segregation -
DB-ID chr1_000272
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 RCV000995577;
Chromosome 1:29529743..29529743
ClinVar Allele ID 798471
Disease database name and identifier MONDO:MONDO:0015003, MedGen:C4310634, OMIM:617282, Orphanet:508093
ClinVar preferred disease name Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
HGVS variant names NC 000001.10:g.29529746del
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Gene symbol:Gene id. MECR:51102
Allele origin maternal
dbSNP ID 1574315873
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: