View genomic variant #0000021676

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.30886628C>T
Published as -
GERP -
Segregation -
DB-ID VARS2_000003 See all 2 reported entries
MSCV MSCV_0001180
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
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     
VARS2 00001291 NM_001167733.1 0000021676 ./. - - c.590C>T p.(Thr197Ile) - - - -
VARS2 00001292 NM_001167734.1 0000021676 ./. - - c.1100C>T p.(Thr367Ile) - - - -
VARS2 00001290 NM_020442.4 0000021676 ./. - - c.1010C>T p.(Thr337Ile) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000129937; RCV000623604; RCV001090482;
Chromosome 6:30886628..30886628
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 151141
Disease database name and identifier MONDO:MONDO:0014397, MedGen:C4014660, OMIM:615917, Orphanet:ORPHA420728|MeSH:D030342, MedGen:C0950123|MedGen:CN517202
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 20|Inborn genetic diseases|not provided
HGVS variant names NC 000006.11:g.30886628C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:612802.0003
Gene symbol:Gene id. VARS2:57176
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 587777585
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