View genomic variant #0000000080

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.150469028C>T
Published as -
GERP 4.920
Segregation -
DB-ID TARS2_000001 See all 2 reported entries
MSCV MSCV_0000080
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 0000000080 ./. - - c.775-978C>T - - - - -
TARS2 00001214 NM_001271896.1 0000000080 ./. - - c.631-978C>T - - - - -
TARS2 00001212 NM_025150.4 0000000080 ./. - 8/18 c.845C>T p.(Pro282Leu) probably_damaging(0.992) missense_variant - deleterious(0)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000132557;
Chromosome 1:150469028..150469028
ClinVar Allele ID 152759
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.150469028C>T
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:612805.0001|UniProtKB (protein):Q9BW92#VAR 071853
Gene symbol:Gene id. TARS2:80222
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 587777593
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