View genomic variant #0000001490

Chromosome M
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) m.14325T>C
Published as -
GERP -6.200
Segregation -
DB-ID chrM_000027 See all 3 reported entries
MSCV MSCV_0001490
dbSNP ID rs397515505
Frequency -
Sources ; clinVar; Mitomap; ensembl;
Reference 20301353
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.
Legend  

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 0000001490 +/+ - . c.349A>G p.N117D - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000055700; RCV000855092;
Chromosome M:14325..14325
ClinVar Allele ID 76420
Disease database name and identifier Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:ORPHA104, SNOMED CT:58610003|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005
ClinVar preferred disease name Leber hereditary optic neuropathy|Leigh syndrome
HGVS variant names NC 012920.1:m.14325T>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
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 397515505
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ND6LHONT14325CN-D+-ReportedCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None