View genomic variant #0000021674

Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.30883762C>T
Published as -
GERP -
Segregation -
DB-ID VARS2_000008
MSCV MSCV_0021674
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 8.0E-5 View details
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 0000021674 ./. - - c.91C>T p.(Arg31Trp) - - - -
VARS2 00001292 NM_001167734.1 0000021674 ./. - - c.601C>T p.(Arg201Trp) - - - -
VARS2 00001290 NM_020442.4 0000021674 ./. - - c.511C>T p.(Arg171Trp) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000998551;
Chromosome 6:30883762..30883763
ClinVar Allele ID 795813
Disease database name and identifier MedGen:CN517202
ClinVar preferred disease name not provided
HGVS variant names NC 000006.11:g.30883764 30883767dup
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Gene symbol:Gene id. VARS2:57176
Molecular consequence SO:0001589|frameshift variant
Allele origin germline
dbSNP ID 1582173192
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000578261; RCV000622841;
Chromosome 6:30883762..30883762
Allele frequencies from ESP 0.00008
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 481504
Disease database name and identifier MONDO:MONDO:0014397, MedGen:C4014660, OMIM:615917, Orphanet:ORPHA420728|MeSH:D030342, MedGen:C0950123
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 20|Inborn genetic diseases
HGVS variant names NC 000006.11:g.30883762C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:612802.0004
Gene symbol:Gene id. VARS2:57176
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 139515727
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