View genomic variant #0000018977

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.26467653C>T
Published as -
GERP -
Segregation -
DB-ID HADHA_000030
MSCV MSCV_0018977
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

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
HADHA 00000786 NM_000182.4 0000018977 ./. - - c.-189G>A p.(=) - - - -
HADHB 00000789 NM_000183.2 0000018977 ./. - - c.-214C>T p.(=) - - - -
HADHA 00000787 XM_005264275.1 0000018977 ./. - - c.-189G>A p.(=) - - - -
HADHA 00000788 XM_005264276.1 0000018977 ./. - - c.-316G>A p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000280419; RCV000284120; RCV001613089;
Chromosome 2:26467653..26467653
Allele frequencies from TGP 0.14716
ClinVar Allele ID 286383
Disease database name and identifier MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:ORPHA746, SNOMED CT:237999008|MedGen:CN239369|MedGen:CN517202
ClinVar preferred disease name Mitochondrial trifunctional protein deficiency|LCHAD Deficiency|not provided
HGVS variant names NC 000002.11:g.26467653C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:53526
Gene symbol:Gene id. HADHA:3030|HADHB:3032
Allele origin germline
dbSNP ID 72809668
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