View genomic variant #0000018991

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.26492857A>G
Published as -
GERP -
Segregation -
DB-ID HADHB_000008
MSCV MSCV_0018991
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00046 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     

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DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
HADHB 00000789 NM_000183.2 0000018991 ./. - - c.246A>G p.(=) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000322039; RCV000723754;
Chromosome 2:26492857..26492857
Allele frequencies from ESP 0.00046
Allele frequencies from ExAC 0.00090
Allele frequencies from TGP 0.00020
ClinVar Allele ID 98507
Disease database name and identifier MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:ORPHA746, SNOMED CT:237999008|MedGen:CN517202
ClinVar preferred disease name Mitochondrial trifunctional protein deficiency|not provided
HGVS variant names NC 000002.11:g.26492857A>G
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(1), Likely benign(2), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:302654
Gene symbol:Gene id. HADHB:3032
Molecular consequence SO:0001819|synonymous variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 151302743
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