View genomic variant #0000001187

Chromosome 6
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
Type ins
DNA change (genomic) (Relative to hg19 / GRCh37) g.44278832_44278833insC
Published as -
GERP -
Segregation -
DB-ID AARS2_000001
dbSNP ID -
Frequency -
Sources ;
Reference -
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 ./. - - c.647_648insG - r.(?) p.(Cys218Leufs*6) - - - -
AARS2 XM_005249245.1 ./. - - c.647_648insG - r.(?) p.(Cys218Leufs*6) - - - -
AARS2 XR_241907.1 ./. - - n.681_682insG - - - - - - -


ClinVar @ MSeqDR

152754
MedGen:C3279793,OMIM:614096,Orphanet:ORPHA319504|MedGen:C4014588,OMIM:615889
Combined oxidative phosphorylation deficiency 8|Leukoencephalopathy, progressive, with ovarian failure
HGVS variant names NC 000006.11:g.44278833dupC
criteria provided, single submitter
Clinical Significance
Duplication
SO:1000035
OMIM Allelic Variant:612035.0003
Gene symbol:Gene id. AARS2:57505
SO:0001589|frameshift variant
1
dbSNP ID 587777589
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