View genomic variant #0000000079

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.150464141A>G
Published as -
GERP 2.110
Segregation -
DB-ID TARS2_000002 See all 2 reported entries
MSCV MSCV_0000079
dbSNP ID NA
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.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
TARS2 00001213 NM_001271895.1 0000000079 ./. - - c.695+3A>G - - - - -
TARS2 00001214 NM_001271896.1 0000000079 ./. - - c.630+154A>G - - - - -
TARS2 00001212 NM_025150.4 0000000079 ./. - - c.695+3A>G p.? - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000132558;
Chromosome 1:150464141..150464141
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 152760
Disease database name and identifier MedGen:C4014668, OMIM:615918, Orphanet:ORPHA420733
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 21
HGVS variant names NC 000001.10:g.150464141A>G
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:612805.0002
Gene symbol:Gene id. TARS2:80222
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 587777594
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