View genomic variant #0000026477

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.44268275G>A
Published as -
GERP -
Segregation -
DB-ID AARS2_000025
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000026477 ./. - - c.*9C>T - r.(=) p.(=) - - - -
AARS2 00000017 XM_005249245.1 0000026477 ./. - - c.*9C>T - r.(=) p.(=) - - - -
AARS2 00000018 XR_241907.1 0000026477 ./. - - n.2891C>T - r.(?) - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000399071; RCV000443277;
Chromosome 6:44268275..44268275
Allele frequencies from ExAC 0.00026
ClinVar Allele ID 307697
Disease database name and identifier MedGen:CN169374|MedGen:CN228601, Orphanet:ORPHA2443
ClinVar preferred disease name not specified|Combined oxidative phosphorylation deficiency
HGVS variant names NC 000006.11:g.44268275G>A
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance 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:564183
Gene symbol:Gene id. AARS2:57505
Molecular consequence SO:0001624|3 prime UTR variant
Allele origin germline
dbSNP ID 772455600
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