View genomic variant #0000015096

Chromosome	M
Allele	Unknown
Affects function (as reported)	Not classified
Affects function (by curator)	Not classified
Type	-
DNA change (genomic) (Relative to hg19 / GRCh37)	m.14180T>C
Published as	-
GERP	-
Segregation	-
DB-ID	chrM_000548 See all 2 reported entries
MSCV	MSCV_0004014
dbSNP ID	-
Frequency	-
Sources	; Somatic:ICGC;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Variant not found in online data sets
Owner	Lishuang Shen

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	RCV000855064;
Chromosome	M:14180..14180
ClinVar Allele ID	680573
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.14180T>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-ND6:4541
Allele origin	germline
dbSNP ID	200933339
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000855063;
Chromosome M:14180..14180
ClinVar Allele ID 680574
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.14180T>G
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. MT-ND6:4541
Allele origin germline
dbSNP ID 200933339
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