View genomic variant #0000026519

Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.44279824C>T
Published as -
GERP -
Segregation -
DB-ID AARS2_000047
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.01699 View details
Owner Lishuang Shen




Variant on transcripts

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
AARS2 00000006 NM_020745.3 0000026519 ./. - - c.420G>A - r.(=) p.(=) - - - -
AARS2 00000017 XM_005249245.1 0000026519 ./. - - c.420G>A - r.(=) p.(=) - - - -
AARS2 00000018 XR_241907.1 0000026519 ./. - - n.454G>A - r.(?) - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000280963; RCV000969511; RCV000123420;
Chromosome 6:44279824..44279824
Allele frequencies from ESP 0.01699
Allele frequencies from ExAC 0.00503
Allele frequencies from TGP 0.02157
ClinVar Allele ID 139925
Disease database name and identifier MedGen:CN169374|MedGen:CN228601, Orphanet:ORPHA2443|MedGen:CN517202
ClinVar preferred disease name not specified|Combined oxidative phosphorylation deficiency|not provided
HGVS variant names NC 000006.11:g.44279824C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:546990
Gene symbol:Gene id. AARS2:57505
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 75506489
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None