View genomic variant #0000021680

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.30888508_30888510del
Published as -
GERP -
Segregation -
DB-ID VARS2_000006
MSCV MSCV_0021680
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 0000021680 ./. - - c.1041_1043del p.(Gly348del) - - - -
VARS2 00001292 NM_001167734.1 0000021680 ./. - - c.1551_1553del p.(Gly518del) - - - -
VARS2 00001290 NM_020442.4 0000021680 ./. - - c.1461_1463del p.(Gly488del) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000578269;
Chromosome 6:30888508..30888510
ClinVar Allele ID 481506
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.30888510 30888512del
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Gene symbol:Gene id. VARS2:57176
Molecular consequence SO:0001822|inframe deletion
Allele origin germline
dbSNP ID 1554268077
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