View genomic variant #0000004549
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.4314T>C |
Published as |
- |
GERP |
-7.630 |
Segregation |
- |
DB-ID |
chrM_000560 |
MSCV |
MSCV_0004549 |
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
ClinVar @ MSeqDR | RCVaccession | RCV000850726; | Chromosome | M:4314..4314 | ClinVar Allele ID | 677717 | 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.4314T>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | MT-TI:4565 | Allele origin | germline | dbSNP ID | 1603219401 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000850725; | Chromosome | M:4314..4314 | ClinVar Allele ID | 677718 | 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.4314T>C | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | MT-TI:4565 | Allele origin | germline | dbSNP ID | 1603219401 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000223713; RCV000850730; | Chromosome | M:4315..4315 | ClinVar Allele ID | 236833 | Disease database name and identifier | MONDO:MONDO:0010789, MedGen:C0162671, OMIM:540000, Orphanet:550|MedGen:CN169374 | ClinVar preferred disease name | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|not specified | HGVS variant names | NC 012920.1:m.4317del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA10581203 | Gene symbol:Gene id. | MT-TI:4565 | Allele origin | germline | dbSNP ID | 876661361 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
Locus | Disease | Allele | Amino_Acid_Change | Homoplasmy | Heteroplasmy | STATUS | Note | MT-TI | Poss. hypertension factor | T4314C | tRNA Ile | + | - | Reported | RNA |
Ensembl Variant Phenotype Information:
None
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