View genomic variant #0000001492

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.14459G>A
Published as -
GERP 4.050
Segregation -
DB-ID chrM_000029 See all 3 reported entries
MSCV MSCV_0001492
dbSNP ID rs199476105
Frequency -
Sources ; clinVar; Mitomap; Ensembl;
Reference 10894222;20301353;7654063;8016139;14735585;16380132
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.
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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 0000001492 +/+ - . c.215C>T p.A72V - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000010327; RCV000010326; RCV000010328; RCV000144019;
Chromosome M:14459..14459
ClinVar Allele ID 24728
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|MONDO:MONDO:0010772, MedGen:C1839040, OMIM:500001|MedGen:C1838951
ClinVar preferred disease name Leber hereditary optic neuropathy|Leigh syndrome|Leber optic atrophy and dystonia|Leigh syndrome due to mitochondrial complex I deficiency
HGVS variant names NC 012920.1:m.14459G>A
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:516006.0002
Gene symbol:Gene id. MT-ND6:4541
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 199476105
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ND6LDYT/Leigh DiseaseG14459AA-V++CfrmCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None