View genomic variant #0000000080

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.150469028C>T
Published as -
GERP 4.920
Segregation -
DB-ID TARS2_000001
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
TARS2 NM_001271895.1 ./. - - c.775-978C>T - - - - -
TARS2 NM_001271896.1 ./. - - c.631-978C>T - - - - -
TARS2 NM_025150.4 ./. - 8/18 c.845C>T p.(Pro282Leu) probably_damaging(0.992) missense_variant - deleterious(0)


ClinVar @ MSeqDR

152759
MedGen:C4014668,OMIM:615918,Orphanet:ORPHA420733
Combined oxidative phosphorylation deficiency 21
HGVS variant names NC 000001.10:g.150469028C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:612805.0001,UniProtKB (protein):Q9BW92#VAR 071853
Gene symbol:Gene id. TARS2:80222
SO:0001583|missense variant,SO:0001627|intron variant
1
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