View genomic variant #0000001188

Chromosome 6
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.44279244A>C
Published as -
GERP 4.880
Segregation -
DB-ID AARS2_000002
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
AARS2 NM_020745.3 +/+ - 3/22 c.464T>G - r.(?) p.(Leu155Arg) probably_damaging(1) missense_variant - deleterious(0)
AARS2 XM_005249245.1 +/+ - 3/22 c.464T>G - r.(?) p.(Leu155Arg) probably_damaging(1) missense_variant - deleterious(0)
AARS2 XR_241907.1 +/+ - - n.498T>G - - - - - - -


ClinVar @ MSeqDR

0.00002
39898
MedGen:C3279793,OMIM:614096,Orphanet:ORPHA319504
Combined oxidative phosphorylation deficiency 8
HGVS variant names NC 000006.11:g.44279244A>C
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:612035.0002,UniProtKB (protein):Q5JTZ9#VAR 065956
Gene symbol:Gene id. AARS2:57505
SO:0001583|missense variant
1
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