View genomic variant #0000001441
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.9176T>C |
Published as |
- |
GERP |
4.970 |
Segregation |
- |
DB-ID |
chrM_000058 See all 3 reported entries |
MSCV |
MSCV_0001441 |
dbSNP ID |
rs199476135 |
Frequency |
- |
Sources |
; clinVar; Mitomap; Ensembl; |
Reference |
7668837;9631394;11245730;11731285;19454486;9270604;9501263 |
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 | RCV000010278; RCV000010279; RCV000754652; RCV001027501; RCV001542707; RCV002251425; RCV002260585; | Chromosome | M:9176..9176 | ClinVar Allele ID | 24683 | Disease database name and identifier | Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:ORPHA104, SNOMED CT:58610003|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0010774, MedGen:C1839022, OMIM:500003|MONDO:MONDO:0017917, MedGen:C4755299, Orphanet:ORPHA320360|MONDO:MONDO:0027069, MedGen:C3275684, OMIM:500015|MONDO:MONDO:0044970, MedGen:C0751651, Orphanet:ORPHA68380|MedGen:CN517202 | ClinVar preferred disease name | Leber optic atrophy|Leigh syndrome|Striatonigral degeneration, infantile, mitochondrial|Maternally-inherited spastic paraplegia|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1|Mitochondrial disease|not provided | HGVS variant names | NC 012920.1:m.9176T>C | ClinVar review status | reviewed by expert panel | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | OMIM Allelic Variant:516060.0005 | Gene symbol:Gene id. | MT-ATP6:4508 | Allele origin | | dbSNP ID | 199476135 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000010285; RCV000754649; RCV001542708; RCV001543462; RCV002221473; | Chromosome | M:9176..9176 | ClinVar Allele ID | 24689 | Disease database name and identifier | Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:ORPHA104, SNOMED CT:58610003|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0027069, MedGen:C3275684, OMIM:500015|MONDO:MONDO:0044970, MedGen:C0751651, Orphanet:ORPHA68380|MedGen:CN517202 | ClinVar preferred disease name | Leber optic atrophy|Leigh syndrome|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1|Mitochondrial disease|not provided | HGVS variant names | NC 012920.1:m.9176T>G | 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 | OMIM Allelic Variant:516060.0011 | Gene symbol:Gene id. | MT-ATP6:4508 | Allele origin | germline | dbSNP ID | 199476135 | 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-ATP6 | FBSN/Leigh Disease | T9176C | L-P | + | + | Cfrm | Coding_and_Control_Region | MT-ATP6 | Leigh Disease/Spastic Paraplegia | T9176G | L-R | - | + | Cfrm | Coding_and_Control_Region |
Ensembl Variant Phenotype Information:
None
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