View genomic variant #0000000059

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type ins
DNA change (genomic) (Relative to hg19 / GRCh37) g.85733584_85733585insAA
Published as -
GERP -
Segregation -
DB-ID BCL10_000003
MSCV MSCV_0000059
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
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.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
BCL10 00003318 NM_003921.4 0000000059 ?/? c.427_428insTT p.(Glu145Leufs*4) - - - - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000006631;
Chromosome 1:85733584..85733585
ClinVar Allele ID 21292
Disease database name and identifier MedGen:C0024301, Orphanet:ORPHA545, SNOMED CT:55150002
ClinVar preferred disease name Follicular lymphoma
HGVS variant names NC 000001.10:g.85733584 85733585dupAA
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:603517.0004
Gene symbol:Gene id. BCL10:8915
Molecular consequence SO:0001589|frameshift variant
Allele origin somatic
dbSNP ID 587776632
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000006638;
Chromosome 1:85733584..85733584
ClinVar Allele ID 21299
Disease database name and identifier MedGen:C0036920, Orphanet:ORPHA3162, SNOMED CT:4950009
ClinVar preferred disease name Sezary syndrome
HGVS variant names NC 000001.10:g.85733584delA
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported OMIM Allelic Variant:603517.0011
Gene symbol:Gene id. BCL10:8915
Molecular consequence SO:0001589|frameshift variant
Allele origin somatic
dbSNP ID 587776638
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