View genomic variant #0000001500

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.14596A>T
Published as -
GERP 4.150
Segregation -
DB-ID chrM_000037 See all 2 reported entries
MSCV MSCV_0001500
dbSNP ID rs387906424
Frequency -
Sources ; clinVar; Mitomap; ensembl;
Reference 8644732;20301353
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 0000001500 +/+ - . c.78T>A p.I26M - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000010329; RCV000055704;
Chromosome M:14596..14596
ClinVar Allele ID 24729
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:0010772, MedGen:C1839040, OMIM:500001
ClinVar preferred disease name Leber hereditary optic neuropathy|Leber optic atrophy and dystonia
HGVS variant names NC 012920.1:m.14596A>T
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:516006.0003
Gene symbol:Gene id. MT-ND6:4541
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 387906424
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ND6LHONA14596TI-M+-ReportedCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None