View genomic variant #0000000709

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.12899964G>A
Published as -
GERP 5.580
Segregation -
DB-ID ELAC2_000001 See all 2 reported entries
MSCV MSCV_0000709
dbSNP ID rs397515463
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 0000000709 +/+ - 16/23 c.1439C>T p.(Thr480Ile) probably_damaging(0.983) missense_variant - deleterious(0)
ELAC2 00001871 NM_018127.6 0000000709 +/+ - 17/24 c.1559C>T p.(Thr520Ile) probably_damaging(0.997) missense_variant - deleterious(0)
ELAC2 00001870 NM_173717.1 0000000709 +/+ - 17/24 c.1556C>T p.(Thr519Ile) - missense_variant - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000056274;
Chromosome 17:12899964..12899964
ClinVar Allele ID 76941
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.12899964G>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:605367.0007|UniProtKB (protein):Q9BQ52#VAR 070846
Gene symbol:Gene id. ELAC2:60528
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 397515463
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