View genomic variant #0000025685

Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.26501623G>A
Published as -
GERP -
Segregation -
DB-ID HADHB_000049
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Lishuang Shen




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 0000025685 ./. - - c.584G>A p.(Arg195Gln) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000560656;
Chromosome 2:26501623..26501623
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 450665
Disease database name and identifier MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:ORPHA746, SNOMED CT:237999008
ClinVar preferred disease name Mitochondrial trifunctional protein deficiency
HGVS variant names NC 000002.11:g.26501623G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. HADHB:3032
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 764507324
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