View genomic variant #0000025679

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.26492873A>G
Published as -
GERP -
Segregation -
DB-ID HADHB_000043
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00023 View details
Owner Lishuang Shen




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 0000025679 ./. - - c.254+8A>G p.(=) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000543702; RCV000612636;
Chromosome 2:26492873..26492873
Allele frequencies from ESP 0.00023
Allele frequencies from ExAC 0.00007
ClinVar Allele ID 450930
Disease database name and identifier MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name not specified|not provided
HGVS variant names NC 000002.11:g.26492873A>G
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. HADHB:3032
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 370597816
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