View genomic variant #0000018998

Chromosome 2
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.26502857A>T
Published as -
GERP -
Segregation -
DB-ID HADHB_000013
MSCV MSCV_0018998
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00538 View details
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
HADHB 00000789 NM_000183.2 0000018998 ./. - - c.812-5A>T p.? - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000880523;
Chromosome 2:26502857..26502857
ClinVar Allele ID 730130
Disease database name and identifier MedGen:CN517202
ClinVar preferred disease name not provided
HGVS variant names NC 000002.11:g.26502857A>C
ClinVar review status criteria provided, single submitter
Clinical Significance Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. HADHB:3032
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 72851534
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000185940; RCV000645252;
Chromosome 2:26502857..26502857
Allele frequencies from ESP 0.00538
Allele frequencies from TGP 0.00859
ClinVar Allele ID 200007
Disease database name and identifier MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:ORPHA746, SNOMED CT:237999008|MedGen:CN169374
ClinVar preferred disease name Mitochondrial trifunctional protein deficiency|not specified
HGVS variant names NC 000002.11:g.26502857A>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:455006
Gene symbol:Gene id. HADHB:3032
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 72851534
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