View genomic variant #0000001494

Chromosome M
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) m.14482C>G
Published as -
GERP -0.731
Segregation -
DB-ID chrM_000031 See all 2 reported entries
MSCV MSCV_0001494
dbSNP ID rs199476108
Frequency -
Sources ; clinvar; ensembl;
Reference 20301353;12112086
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
MT-ND6 00001348 MT-ND6-201 0000001494 +/+ - . c.192G>C p.M64I - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000010332;
Chromosome M:14482..14482
ClinVar Allele ID 24732
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
ClinVar preferred disease name Leber hereditary optic neuropathy
HGVS variant names NC 012920.1:m.14482C>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:516006.0006
Gene symbol:Gene id. MT-ND6:4541
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 199476108
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000055701;
Chromosome M:14482..14482
ClinVar Allele ID 76421
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
ClinVar preferred disease name Leber hereditary optic neuropathy
HGVS variant names NC 012920.1:m.14482C>G
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
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 maternal
dbSNP ID 199476108
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ND6LHONC14482AM-I++CfrmCoding_and_Control_Region
MT-ND6LHONC14482GM-I++CfrmCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None