View genomic variant #0000023175

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.8528T>C
Published as	-
GERP	-
Segregation	-
DB-ID	chrM_000051 See all 2 reported entries
MSCV	MSCV_0001434
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	RCV000010272; RCV000854219; RCV002260584;
Chromosome	M:8528..8528
ClinVar Allele ID	24679
Disease database name and identifier	Human Phenotype Ontology:HP:0005152, MONDO:MONDO:0010771, MedGen:C1708371, OMIM:500000, Orphanet:ORPHA137675\|MONDO:MONDO:0010777, MedGen:C2748884, OMIM:500006\|MONDO:MONDO:0044970, MedGen:C0751651, Orphanet:ORPHA68380
ClinVar preferred disease name	Histiocytoid cardiomyopathy\|Cardiomyopathy, infantile hypertrophic\|Mitochondrial disease
HGVS variant names	NC 012920.1:m.8528T>C
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:516060.0010\|OMIM Allelic Variant:516070.0003
Gene symbol:Gene id.	MT-ATP6:4508\|MT-ATP8:4509
Allele origin	germline
dbSNP ID	387906422
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-ATP8/6?	Infantile cardiomyopathy	T8528C	W-R (ATP8); M(start)-T (ATP6)	+	+	Reported	Coding_and_Control_Region

Ensembl Variant Phenotype Information:

None