View genomic variant #0000026523

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.44280912A>C
Published as -
GERP -
Segregation -
DB-ID AARS2_000051
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 0000026523 ./. - - c.149T>G - r.(?) p.(Phe50Cys) - - - -
AARS2 00000017 XM_005249245.1 0000026523 ./. - - c.149T>G - r.(?) p.(Phe50Cys) - - - -
AARS2 00000018 XR_241907.1 0000026523 ./. - - n.183T>G - r.(?) - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000132553;
Chromosome 6:44280912..44280912
ClinVar Allele ID 152755
Disease database name and identifier MedGen:C4014588, OMIM:615889
ClinVar preferred disease name Leukoencephalopathy, progressive, with ovarian failure
HGVS variant names NC 000006.11:g.44280912A>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:612035.0004|UniProtKB (protein):Q5JTZ9#VAR 071837
Gene symbol:Gene id. AARS2:57505
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 587777590
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