View genomic variant #0000001378

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.5521G>A
Published as -
GERP 4.170
Segregation -
DB-ID chrM_000023 See all 2 reported entries
MSCV MSCV_0001378
dbSNP ID rs199474673
Frequency -
Sources ; clinVar; Mitomap; Ensembl;
Reference 9673981
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     

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DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
MT-TW 00001326 MT-TW-201 0000001378 +/+ - . . . - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000010166; RCV000850777; RCV002291209;
Chromosome M:5521..5521
ClinVar Allele ID 24595
Disease database name and identifier MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0003737, Human Phenotype Ontology:HP:0008960, MONDO:MONDO:0009637, MedGen:C0162670, Orphanet:206966|MONDO:MONDO:0010789, MedGen:C0162671, OMIM:540000, Orphanet:550
ClinVar preferred disease name Mitochondrial disease|Inborn mitochondrial myopathy|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
HGVS variant names NC 012920.1:m.5521G>A
ClinVar review status reviewed by expert panel
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA254831|Genetic Testing Registry (GTR):GTR000591967|Genetic Testing Registry (GTR):GTR000591975|Genetic Testing Registry (GTR):GTR000591976|OMIM:590095.0003
Gene symbol:Gene id. MT-TW:4578
Allele origin
dbSNP ID 199474673
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-TWMMG5521AtRNA Trp-+ReportedRNA

Ensembl Variant Phenotype Information:

None