View genomic variant #0000000709

Chromosome 17
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.12899964G>A
Published as -
GERP 5.580
Segregation -
DB-ID ELAC2_000001
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ELAC2 NM_001165962.1 +/+ - 16/23 c.1439C>T p.(Thr480Ile) probably_damaging(0.983) missense_variant - deleterious(0)
ELAC2 NM_018127.6 +/+ - 17/24 c.1559C>T p.(Thr520Ile) probably_damaging(0.997) missense_variant - deleterious(0)
ELAC2 NM_173717.1 +/+ - 17/24 c.1556C>T p.(Thr519Ile) - missense_variant - -


ClinVar @ MSeqDR

76941
MedGen:C3809526,OMIM:615440,Orphanet:ORPHA369913
Combined oxidative phosphorylation deficiency 17
HGVS variant names NC 000017.10:g.12899964G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:605367.0007,UniProtKB (protein):Q9BQ52#VAR 070846
Gene symbol:Gene id. ELAC2:60528
SO:0001583|missense variant
1
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