View genomic variant #0000036537

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.29522747T>C
Published as -
Segregation -
DB-ID chr1_000422
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Retrieve
Owner Lishuang Shen

Variant on transcripts

0 entries on 0 pages.


Transcript ID     


Variant ID     

Affects function     

Stop! No results have been found that match your criteria.
Please redefine your search criteria.

ClinVar @ MSeqDR

RCVaccession RCV000415576; RCV000755159;
Chromosome 1:29522747..29522747
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 361786
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
ClinVar preferred disease name Optic atrophy|Childhood Onset Dystonias|Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
HGVS variant names NC 000001.10:g.29522747T>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA725617|OMIM:608205.0004
Gene symbol:Gene id. MECR:51102
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 759218713
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: