View genomic variant #0000000711

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.12909284T>A
Published as -
GERP 3.260
Segregation -
DB-ID ELAC2_000003 See all 2 reported entries
MSCV MSCV_0000711
dbSNP ID rs397515464
Frequency -
Sources ; clinvar;
Reference 23849775
Variant remarks -
Genetic origin -
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     
ELAC2 00001869 NM_001165962.1 0000000711 +/+ - 8/23 c.631A>T p.(Arg211*) - stop_gained - -
ELAC2 00001871 NM_018127.6 0000000711 +/+ - 9/24 c.751A>T p.(Arg251*) - stop_gained - -
ELAC2 00001870 NM_173717.1 0000000711 +/+ - 9/24 c.751A>T p.(Arg251*) - stop_gained - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000056275;
Chromosome 17:12909284..12909284
ClinVar Allele ID 76942
Disease database name and identifier MedGen:C3809526, OMIM:615440, Orphanet:ORPHA369913
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 17
HGVS variant names NC 000017.10:g.12909284T>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:605367.0006
Gene symbol:Gene id. ELAC2:60528
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 397515464
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