View genomic variant #0000023155

Chromosome M
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) m.7965T>C
Published as -
GERP -
Segregation -
DB-ID chrM_002647
MSCV MSCV_0000006
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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ClinVar @ MSeqDR

RCVaccession RCV000509036;
Chromosome M:7965..7965
ClinVar Allele ID 434458
Disease database name and identifier MONDO:MONDO:0009068, MedGen:C5435656, OMIM:220110, Orphanet:ORPHA254905, SNOMED CT:67434000
ClinVar preferred disease name Mitochondrial complex IV deficiency
HGVS variant names NC 012920.1:m.7965T>C
ClinVar review status no assertion criteria provided
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium, Children's Hospital Los Angeles:MSCV 0000006
Gene symbol:Gene id. MT-CO2:4513
Molecular consequence SO:0001583|missense variant
Allele origin maternal
dbSNP ID 1556423369
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