View genomic variant #0000021678

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.30887868G>A
Published as -
GERP -
Segregation -
DB-ID VARS2_000004
MSCV MSCV_0021678
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00012 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 0000021678 ./. - - c.748G>A p.(Ala250Thr) - - - -
VARS2 00001292 NM_001167734.1 0000021678 ./. - - c.1258G>A p.(Ala420Thr) - - - -
VARS2 00001290 NM_020442.4 0000021678 ./. - - c.1168G>A p.(Ala390Thr) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000625984; RCV000676486;
Chromosome 6:30887868..30887868
Allele frequencies from ESP 0.00012
Allele frequencies from ExAC 0.00031
Allele frequencies from TGP 0.00020
ClinVar Allele ID 513421
Disease database name and identifier MONDO:MONDO:0014397, MedGen:C4014660, OMIM:615917, Orphanet:ORPHA420728|MedGen:CN517202
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 20|not provided
HGVS variant names NC 000006.11:g.30887868G>A
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Pathogenic(1)| Likely pathogenic(1)| Uncertain significance(2)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Undiagnosed Diseases Network, NIH:b4d60bad-c651-4fe5-b40a-5da526e1660c 1|OMIM Allelic Variant:612802.0005
Gene symbol:Gene id. VARS2:57176
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 202201763
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