View genomic variant #0000021679

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.30888447G>C
Published as -
GERP -
Segregation -
DB-ID VARS2_000005
MSCV MSCV_0021679
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 0000021679 ./. - - c.980G>C p.(Arg327Pro) - - - -
VARS2 00001292 NM_001167734.1 0000021679 ./. - - c.1490G>C p.(Arg497Pro) - - - -
VARS2 00001290 NM_020442.4 0000021679 ./. - - c.1400G>C p.(Arg467Pro) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV001201408;
Chromosome 6:30888447..30888447
ClinVar Allele ID 939763
Disease database name and identifier MONDO:MONDO:0014397, MedGen:C4014660, OMIM:615917, Orphanet:ORPHA420728
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 20
HGVS variant names NC 000006.11:g.30888447G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:612802.0007
Gene symbol:Gene id. VARS2:57176
Molecular consequence SO:0001583|missense variant
Allele origin germline
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000578459;
Chromosome 6:30888447..30888447
ClinVar Allele ID 481505
Disease database name and identifier MONDO:MONDO:0014397, MedGen:C4014660, OMIM:615917, Orphanet:ORPHA420728
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 20
HGVS variant names NC 000006.11:g.30888447G>C
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
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 775439829
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