View genomic variant #0000001188

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.44279244A>C
Published as -
GERP 4.880
Segregation -
DB-ID AARS2_000002 See all 2 reported entries
MSCV MSCV_0001188
dbSNP ID rs387907061
Frequency -
Sources ; clinVar;
Reference 21549344;24808023
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




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 0000001188 +/+ - 3/22 c.464T>G - r.(?) p.(Leu155Arg) probably_damaging(1) missense_variant - deleterious(0)
AARS2 00000017 XM_005249245.1 0000001188 +/+ - 3/22 c.464T>G - r.(?) p.(Leu155Arg) probably_damaging(1) missense_variant - deleterious(0)
AARS2 00000018 XR_241907.1 0000001188 +/+ - - n.498T>G - - - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000023930;
Chromosome 6:44279244..44279244
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 39898
Disease database name and identifier MedGen:C3279793, OMIM:614096, Orphanet:ORPHA319504
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 8
HGVS variant names NC 000006.11:g.44279244A>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:612035.0002|UniProtKB (protein):Q5JTZ9#VAR 065956
Gene symbol:Gene id. AARS2:57505
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 387907061
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