View genomic variant #0000026507

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.44274121T>C
Published as -
GERP -
Segregation -
DB-ID AARS2_000035
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.0113 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 0000026507 ./. - - c.1196A>G - r.(?) p.(Asn399Ser) - - - -
AARS2 00000017 XM_005249245.1 0000026507 ./. - - c.905A>G - r.(?) p.(Asn302Ser) - - - -
AARS2 00000018 XR_241907.1 0000026507 ./. - - n.1230A>G - r.(?) - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000268300; RCV000429881; RCV000123426;
Chromosome 6:44274121..44274121
Allele frequencies from ESP 0.01130
Allele frequencies from ExAC 0.00314
Allele frequencies from TGP 0.01078
ClinVar Allele ID 139931
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.44274121T>C
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(2), Likely benign(1), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:546986
Gene symbol:Gene id. AARS2:57505
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 113433939
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