View genomic variant #0000001497

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.14487T>C
Published as -
GERP 4.050
Segregation -
DB-ID chrM_000034 See all 2 reported entries
MSCV MSCV_0001497
dbSNP ID rs199476109
Frequency -
Sources ; clinVar; Mitomap; Ensembl;
Reference 14520668;14684687;15576045;12205655;14595656
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 0000001497 +/+ - . c.187A>G p.M63V - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000010334; RCV000010333; RCV000144020;
Chromosome M:14487..14487
ClinVar Allele ID 24733
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MedGen:C1838951|MedGen:C1838954
ClinVar preferred disease name Leigh syndrome|Leigh syndrome due to mitochondrial complex I deficiency|Striatal necrosis, bilateral, with dystonia
HGVS variant names NC 012920.1:m.14487T>C
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:516006.0007
Gene symbol:Gene id. MT-ND6:4541
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 199476109
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ND6Dystonia/Leigh Disease/AtaxiaT14487CM-V-+CfrmCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None