View genomic variant #0000023328

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.14319T>C
Published as	-
GERP	-
Segregation	-
DB-ID	chrM_000026 See all 2 reported entries
MSCV	MSCV_0001489
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	RCV000010335; RCV000855091;
Chromosome	M:14319..14319
ClinVar Allele ID	24734
Disease database name and identifier	MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506\|MONDO:MONDO:0011613, MedGen:C1853833, OMIM:605909, Orphanet:2828
ClinVar preferred disease name	Leigh syndrome\|Autosomal recessive early-onset Parkinson disease 6
HGVS variant names	NC 012920.1:m.14319T>C
ClinVar review status	criteria provided, single submitter
Clinical Significance	Benign
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA254854\|OMIM:516006.0008
Gene symbol:Gene id.	MT-ND6:4541
Allele origin	germline
dbSNP ID	199476110
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-ND6	PD, early onset	T14319C	N-D	+	-	Reported	Coding_and_Control_Region

Ensembl Variant Phenotype Information:

None