View genomic variant #0000018993

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.26499942_26499943insT
Published as -
GERP -
Segregation -
DB-ID HADHB_000010
MSCV MSCV_0018993
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 LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

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 0000018993 ./. - - c.356_357insT p.(Ala120Cysfs*8) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000239530;
Chromosome 2:26499942..26499943
ClinVar Allele ID 247460
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.26499943dup
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported OMIM Allelic Variant:143450.0008
Gene symbol:Gene id. HADHB:3032
Molecular consequence SO:0001589|frameshift variant
Allele origin germline
dbSNP ID 886037844
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