View genomic variant #0000001186

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.44272249G>A
Published as -
GERP 0.272
Segregation -
DB-ID AARS2_000003 See all 2 reported entries
MSCV MSCV_0001186
dbSNP ID rs138119149
Frequency -
Sources ; clinVar;
Reference 25058219;21549344
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00023 View details
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 0000001186 +/+ - 13/22 c.1774C>T - r.(?) p.(Arg592Trp) possibly_damaging(0.806) missense_variant - deleterious(0)
AARS2 00000017 XM_005249245.1 0000001186 +/+ - 11/20 c.1483C>T - r.(?) p.(Arg495Trp) - missense_variant - -
AARS2 00000018 XR_241907.1 0000001186 +/+ - - n.1808C>T - - - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000023929; RCV000622422; RCV000196012;
Chromosome 6:44272249..44272249
Allele frequencies from ESP 0.0002
Allele frequencies from ExAC 0.00027
ClinVar Allele ID 39897
Disease database name and identifier MeSH:D030342, MedGen:C0950123|MedGen:C3279793, OMIM:614096, Orphanet:ORPHA319504|MedGen:CN517202
ClinVar preferred disease name Inborn genetic diseases|Combined oxidative phosphorylation deficiency 8|not provided
HGVS variant names NC 000006.11:g.44272249G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:612035.0001|UniProtKB (protein):Q5JTZ9#VAR 065957
Gene symbol:Gene id. AARS2:57505
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 138119149
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