View genomic variant #0000004011

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.14163C>T
Published as -
GERP 1.780
Segregation -
DB-ID chrM_000545
MSCV MSCV_0004011
dbSNP ID -
Frequency -
Sources ; Mitomap;
Reference -
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 0000004011 +?/+? - . c.511G>A p.A171T - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000855061;
Chromosome M:14163..14163
ClinVar Allele ID 680571
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 012920.1:m.14163C>T
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 germline
dbSNP ID 1603224574
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ND6Possible deafness factorC14163TA-T+-Conflicting reportsCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None