Genomic variant #0000001186

Chromosome 6
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.44272249G>A
Published as -
GERP 0.272
Segregation -
DB-ID AARS2_000003
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
AARS2 NM_020745.3 +/+ - 13/22 c.1774C>T - r.(?) p.(Arg592Trp) possibly_damaging(0.806) missense_variant - deleterious(0)
AARS2 XM_005249245.1 +/+ - 11/20 c.1483C>T - r.(?) p.(Arg495Trp) - missense_variant - -
AARS2 XR_241907.1 +/+ - - n.1808C>T - - - - - - -


ClinVar @ MSeqDR

0.0002
0.00027
39897
MeSH:D030342,MedGen:C0950123|MedGen:C3279793,OMIM:614096,Orphanet:ORPHA319504|MedGen:CN517202
Inborn genetic diseases|Combined oxidative phosphorylation deficiency 8|not provided
HGVS variant names NC 000006.11:g.44272249G>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:612035.0001|UniProtKB (protein):Q5JTZ9#VAR 065957
Gene symbol:Gene id. AARS2:57505
SO:0001583|missense variant
17
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