View genomic variant #0000001187

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type ins
DNA change (genomic) (Relative to hg19 / GRCh37) g.44278832_44278833insC
Published as -
GERP -
Segregation -
DB-ID AARS2_000001 See all 2 reported entries
MSCV MSCV_0001187
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

3 entries on 1 page. Showing entries 1 - 3.
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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 0000001187 ./. - - c.647_648insG - r.(?) p.(Cys218Leufs*6) - - - -
AARS2 00000017 XM_005249245.1 0000001187 ./. - - c.647_648insG - r.(?) p.(Cys218Leufs*6) - - - -
AARS2 00000018 XR_241907.1 0000001187 ./. - - n.681_682insG - - - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000132552; RCV000320263;
Chromosome 6:44278833..44278833
ClinVar Allele ID 152754
Disease database name and identifier MedGen:C3279793, OMIM:614096, Orphanet:ORPHA319504|MedGen:C4014588, OMIM:615889
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 8|Leukoencephalopathy, progressive, with ovarian failure
HGVS variant names NC 000006.11:g.44278833dupC
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported OMIM Allelic Variant:612035.0003
Gene symbol:Gene id. AARS2:57505
Molecular consequence SO:0001589|frameshift variant
Allele origin germline
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