View genomic variant #0000004647

Chromosome M
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) m.5543T>C
Published as -
GERP 5.090
Segregation -
DB-ID chrM_000312
MSCV MSCV_0004647
dbSNP ID -
Frequency -
Sources ; Mitomap;
Reference -
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-TW 00001326 MT-TW-201 0000004647 +?/+? - . . . - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000850788;
Chromosome M:5543..5543
ClinVar Allele ID 677772
Disease database name and identifier MONDO:MONDO:0010789, MedGen:C0162671, OMIM:540000, Orphanet:550
ClinVar preferred disease name Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
HGVS variant names NC 012920.1:m.5543T>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
Gene symbol:Gene id. MT-TW:4578
Allele origin germline
dbSNP ID 1603220016
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-TWMMT5543CtRNA Trp-+ReportedRNA

Ensembl Variant Phenotype Information:

None