View genomic variant #0000018985

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.26477125_26477126insACT
Published as -
GERP -
Segregation -
DB-ID HADHB_000034
MSCV MSCV_0018985
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.91314 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 0000018985 ./. - - c.3_4insACT p.(Thr2dup) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000078340; RCV000144492; RCV000270663;
Chromosome 2:26477125..26477126
ClinVar Allele ID 98508
Disease database name and identifier MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:ORPHA746, SNOMED CT:237999008|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Mitochondrial trifunctional protein deficiency|not specified|not provided
HGVS variant names NC 000002.11:g.26477127 26477129dup
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:497876|Invitae:684901
Gene symbol:Gene id. HADHB:3032
Molecular consequence SO:0001821|inframe insertion, SO:0001623|5 prime UTR variant
Allele origin germline
dbSNP ID 3839049
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