View genomic variant #0000018999

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.26502875T>C
Published as -
GERP -
Segregation -
DB-ID HADHB_000014
MSCV MSCV_0018999
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.164 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 0000018999 ./. - - c.825T>C p.(=) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000278987; RCV001613090;
Chromosome 2:26502875..26502875
Allele frequencies from ESP 0.16400
Allele frequencies from ExAC 0.20587
Allele frequencies from TGP 0.14557
ClinVar Allele ID 289114
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.26502875T>C
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:53537
Gene symbol:Gene id. HADHB:3032
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 1056389
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