View genomic variant #0000026442

Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.30889936C>T
Published as -
GERP -
Segregation -
DB-ID VARS2_000010
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00012 View details
Owner Lishuang Shen




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     
VARS2 00001291 NM_001167733.1 0000026442 ./. - - c.1430C>T p.(Thr477Met) - - - -
VARS2 00001292 NM_001167734.1 0000026442 ./. - - c.1940C>T p.(Thr647Met) - - - -
VARS2 00001290 NM_020442.4 0000026442 ./. - - c.1850C>T p.(Thr617Met) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000413756; RCV000676492; RCV000709983;
Chromosome 6:30889936..30889936
Allele frequencies from ESP 0.00012
Allele frequencies from ExAC 0.00022
Allele frequencies from TGP 0.00020
ClinVar Allele ID 359597
Disease database name and identifier MONDO:MONDO:0014397, MedGen:C4014660, OMIM:615917, Orphanet:ORPHA420728|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 20|not specified|not provided
HGVS variant names NC 000006.11:g.30889936C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. VARS2:57176
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 367837827
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