View genomic variant #0000001340
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.3308T>C |
Published as |
- |
GERP |
3.080 |
Segregation |
- |
DB-ID |
chrM_000092 See all 2 reported entries |
MSCV |
MSCV_0001340 |
dbSNP ID |
rs28358582 |
Frequency |
- |
Sources |
; clinvar; ensembl; |
Reference |
10519336;10521313;13298683;9806551 |
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 | RCV000853628; | Chromosome | M:3308..3308 | ClinVar Allele ID | 680865 | Disease database name and identifier | MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506 | ClinVar preferred disease name | Leigh syndrome | HGVS variant names | NC 012920.1:m.3308delinsAC | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Gene symbol:Gene id. | MT-ND1:4535 | Allele origin | germline | dbSNP ID | 1603218887 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000010379; RCV000010380; RCV000239184; RCV000853627; | Chromosome | M:3308..3308 | ClinVar Allele ID | 24767 | Disease database name and identifier | MedGen:CN169374|EFO:EFO 0005303, MeSH:D013398, MedGen:C0038644, OMIM:272120|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506|MONDO:MONDO:0002032, MedGen:C0699790 | ClinVar preferred disease name | not specified|SUDDEN INFANT DEATH SYNDROME|Leigh syndrome|Carcinoma of colon | HGVS variant names | NC 012920.1:m.3308T>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA340945|OMIM:516000.0007 | Gene symbol:Gene id. | MT-ND1:4535 | Allele origin | germline | dbSNP ID | 28358582 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000010381; RCV000853629; | Chromosome | M:3308..3308 | ClinVar Allele ID | 24768 | Disease database name and identifier | EFO:EFO 0005303, MeSH:D013398, MedGen:C0038644, OMIM:272120|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506 | ClinVar preferred disease name | SUDDEN INFANT DEATH SYNDROME|Leigh syndrome | HGVS variant names | NC 012920.1:m.3308T>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA340946|OMIM:516000.0008 | Gene symbol:Gene id. | MT-ND1:4535 | Allele origin | germline | dbSNP ID | 28358582 | 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-ND1 | MELAS/DEAF enhancer/hypertension/LVNC | T3308C | M-T | - | + | P.M.-possibly synergistic | Coding_and_Control_Region | MT-ND1 | Sudden Infant Death | T3308G | M-X | + | + | Reported | Coding_and_Control_Region |
Ensembl Variant Phenotype Information:
None
|