View genomic variant #0000020052

Chromosome 22
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.41920917C>T
Published as -
GERP -
Segregation -
DB-ID ACO2_000003
MSCV MSCV_0020052
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     
ACO2 00000021 NM_001098.2 0000020052 ./. - - c.1550C>T p.(Thr517Met) - - - -
ACO2 00000020 XM_005261621.1 0000020052 ./. - - c.1301C>T p.(Thr434Met) - - - -
ACO2 00000019 XM_005261622.1 0000020052 ./. - - c.683C>T p.(Thr228Met) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000626181; RCV001355735;
Chromosome 22:41920917..41920917
Allele frequencies from ExAC 0.00022
Allele frequencies from TGP 0.00040
ClinVar Allele ID 513671
Disease database name and identifier MedGen:C3661900|MONDO:MONDO:0013802, MedGen:C3281192, OMIM:614559, Orphanet:313850
ClinVar preferred disease name not provided|Infantile cerebellar-retinal degeneration
HGVS variant names NC 000022.10:g.41920917C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Uncertain significance(1)|Likely benign(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA10257697
Gene symbol:Gene id. ACO2:50
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 540169523
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