View genomic variant #0000001489

Chromosome M
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) m.14319T>C
Published as -
GERP -3.510
Segregation -
DB-ID chrM_000026 See all 2 reported entries
MSCV MSCV_0001489
dbSNP ID rs199476110
Frequency -
Sources ; clinVar; Mitomap; Ensembl;
Reference 18524835
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
MT-ND6 00001348 MT-ND6-201 0000001489 +?/+? - . c.355A>G p.N119D - - - -
Legend  


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:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0011613, MedGen:C1853833, OMIM:605909
ClinVar preferred disease name Leigh syndrome|Parkinson disease 6, autosomal recessive early-onset
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 OMIM Allelic Variant:516006.0008
Gene symbol:Gene id. MT-ND6:4541
Molecular consequence SO:0001583|missense variant
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:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ND6PD, early onsetT14319CN-D+-ReportedCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None