View genomic variant #0000026479

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.44268371T>C
Published as -
GERP -
Segregation -
DB-ID AARS2_000027
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.87114 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 0000026479 ./. - - c.2871A>G - r.(=) p.(=) - - - -
AARS2 00000017 XM_005249245.1 0000026479 ./. - - c.2580A>G - r.(=) p.(=) - - - -
AARS2 00000018 XR_241907.1 0000026479 ./. - - n.2795A>G - r.(?) - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000123419;
Chromosome 6:44268371..44268371
Allele frequencies from ESP 0.12886
Allele frequencies from ExAC 0.05740
Allele frequencies from TGP 0.13059
ClinVar Allele ID 139924
Disease database name and identifier MedGen:CN169374
ClinVar preferred disease name not specified
HGVS variant names NC 000006.11:g.44268371%3D
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. AARS2:57505
Molecular consequence SO:0002073|no sequence alteration
Allele origin germline
dbSNP ID 325008
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000307106; RCV000676723;
Chromosome 6:44268371..44268371
Allele frequencies from ESP 0.87114
Allele frequencies from ExAC 0.94260
Allele frequencies from TGP 0.86941
ClinVar Allele ID 303162
Disease database name and identifier MedGen:CN228601, Orphanet:ORPHA2443|MedGen:CN517202
ClinVar preferred disease name Combined oxidative phosphorylation deficiency|not provided
HGVS variant names NC 000006.11:g.44268371T>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 Illumina Clinical Services Laboratory, Illumina:39774
Gene symbol:Gene id. AARS2:57505
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 325008
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