View genomic variant #0000023338

Chromosome M
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) m.14484T>C
Published as -
GERP -
Segregation -
DB-ID chrM_000033 See all 2 reported entries
MSCV MSCV_0001496
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 RCV000010325; RCV000144018; RCV000223709;
Chromosome M:14484..14484
ClinVar Allele ID 24727
Disease database name and identifier Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:ORPHA104, SNOMED CT:58610003|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MedGen:CN517202
ClinVar preferred disease name Leber optic atrophy|Leigh syndrome|not provided
HGVS variant names NC 012920.1:m.14484T>C
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:516006.0001
Gene symbol:Gene id. MT-ND6:4541
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 199476104
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000855114;
Chromosome M:14484..14484
ClinVar Allele ID 680619
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 012920.1:m.14484T>G
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. MT-ND6:4541
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 199476104
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ND6LHONT14484CM-V++CfrmCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None