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 Likely pathogenic(1), Pathogenic(1), Uncertain significance(1)
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