View genomic variant #0000023181

Chromosome	M
Allele	Unknown
Affects function (as reported)	Probably does not affect function
Affects function (by curator)	Probably does not affect function
Type	-
DNA change (genomic) (Relative to hg19 / GRCh37)	m.8617_8618insT
Published as	-
GERP	-
Segregation	-
DB-ID	chrM_000053 See all 2 reported entries
MSCV	MSCV_0001436
dbSNP ID	-
Frequency	-
Sources	; clinvar;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Variant not found in online data sets
Owner	LOVD

Variant on transcripts

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Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

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Gene	Transcript ID	Transcript	Variant ID	Affects function

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ClinVar @ MSeqDR
RCVaccession	RCV000224510; RCV000854261;
Chromosome	M:8616..8616
ClinVar Allele ID	237307
Disease database name and identifier	MedGen:CN517202\|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name	not provided\|Leigh syndrome
HGVS variant names	NC 012920.1:m.8616G>T
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:CA10581379
Gene symbol:Gene id.	MT-ATP6:4508
Allele origin	germline
dbSNP ID	41427749
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000010283;
Chromosome M:8617..8618
ClinVar Allele ID 24687
Disease database name and identifier MONDO:MONDO:0010794, MedGen:C1328349, OMIM:551500, Orphanet:644
ClinVar preferred disease name NARP syndrome
HGVS variant names NC 012920.1:m.8618dup
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported ClinGen:CA254849|OMIM:516060.0009
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 387906423
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000854262;
Chromosome M:8617..8617
ClinVar Allele ID 681462
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.8617A>G
ClinVar review status criteria provided, single submitter
Clinical Significance Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 1603221641
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000854263;
Chromosome M:8618..8618
ClinVar Allele ID 681463
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.8618T>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-ATP6:4508
Allele origin germline
dbSNP ID 28358885
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None