View genomic variant #0000000798

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.26502112G>A
Published as -
GERP 5.690
Segregation -
DB-ID HADHB_000002 See all 2 reported entries
MSCV MSCV_0000798
dbSNP ID rs121913133
Frequency -
Sources ; clinVar; Ensembl;
Reference 8651282
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000000798 +/+ - 9/16 c.740G>A p.(Arg247His) benign(0.107) missense_variant - deleterious(0.05)
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ClinVar @ MSeqDR

RCVaccession RCV000015971; RCV000481427;
Chromosome 2:26502112..26502112
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 29885
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.26502112G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:143450.0003|UniProtKB (protein):P55084#VAR 007494
Gene symbol:Gene id. HADHB:3032
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 121913133
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