View genomic variant #0000026022

Chromosome 22
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.41923364C>G
Published as -
GERP -
Segregation -
DB-ID ACO2_000014
MSCV -
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 Lishuang Shen




Variant on transcripts

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

DNA change (cDNA)     

Exon     

Protein     

GVS function     

Splice distance     

Position     

PolyPhen     

RNA change     

SIFT     
ACO2 00000021 NM_001098.2 0000026022 ./. - c.2026C>G - p.(Leu676Val) - - - - r.(?) -
POLR3H 00004999 NM_138338.3 0000026022 ./. - c.*1923G>C - p.(=) - - - - r.(=) -
ACO2 00000020 XM_005261621.1 0000026022 ./. - c.1777C>G - p.(Leu593Val) - - - - r.(?) -
ACO2 00000019 XM_005261622.1 0000026022 ./. - c.1159C>G - p.(Leu387Val) - - - - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000714584;
Chromosome 22:41923364..41923364
ClinVar Allele ID 578585
Disease database name and identifier MONDO:MONDO:0013802, MedGen:C3281192, OMIM:614559, Orphanet:313850
ClinVar preferred disease name Infantile cerebellar-retinal degeneration
HGVS variant names NC 000022.10:g.41923364C>G
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. ACO2:50|POLR3H:171568
Molecular consequence SO:0001583|missense variant, SO:0001624|3 prime UTR variant
Allele origin inherited
dbSNP ID 1569025557
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