View genomic variant #0000023336

Chromosome	M
Allele	Unknown
Affects function (as reported)	Affects function
Affects function (by curator)	Affects function
Type	-
DNA change (genomic) (Relative to hg19 / GRCh37)	m.14482C>G
Published as	-
GERP	-
Segregation	-
DB-ID	chrM_000031 See all 2 reported entries
MSCV	MSCV_0001494
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	RCV000010332; RCV002260590;
Chromosome	M:14482..14482
ClinVar Allele ID	24732
Disease database name and identifier	MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380\|Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:104
ClinVar preferred disease name	Mitochondrial disease\|Leber optic atrophy
HGVS variant names	NC 012920.1:m.14482C>A
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	ClinGen:CA340934\|Genetic Testing Registry (GTR):GTR000591967\|Genetic Testing Registry (GTR):GTR000591975\|Genetic Testing Registry (GTR):GTR000591976\|OMIM:516006.0006
Gene symbol:Gene id.	MT-ND6:4541
Allele origin
dbSNP ID	199476108
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000055701; RCV003162433;
Chromosome M:14482..14482
ClinVar Allele ID 76421
Disease database name and identifier MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:104
ClinVar preferred disease name Mitochondrial disease|Leber optic atrophy
HGVS variant names NC 012920.1:m.14482C>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 ClinGen:CA344824|Genetic Testing Registry (GTR):GTR000591967|Genetic Testing Registry (GTR):GTR000591975|Genetic Testing Registry (GTR):GTR000591976
Gene symbol:Gene id. MT-ND6:4541
Allele origin
dbSNP ID 199476108
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	LHON	C14482A	M-I	+	+	Cfrm	Coding_and_Control_Region
MT-ND6	LHON	C14482G	M-I	+	+	Cfrm	Coding_and_Control_Region

Ensembl Variant Phenotype Information:

None