View genomic variant #0000013671

Chromosome M
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) m.8668T>C
Published as -
GERP -
Segregation -
DB-ID chrM_001213 See all 2 reported entries
MSCV MSCV_0004928
dbSNP ID -
Frequency -
Sources ; Somatic:COSMIC;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

0 entries on 0 pages.
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ClinVar @ MSeqDR

RCVaccession RCV000854284;
Chromosome M:8668..8668
ClinVar Allele ID 681483
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 012920.1:m.8668T>C
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 1603221688
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ATP6LHONT8668CW-R+-ReportedCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None