View genomic variant #0000000061

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.85733613_85733614insA
Published as -
GERP -
Segregation -
DB-ID BCL10_000005 See all 2 reported entries
MSCV MSCV_0000061
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 0000000061 ?/? c.398_399insT p.(Ser134Leufs*7) - - - - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000006635;
Chromosome 1:85733614..85733614
ClinVar Allele ID 21296
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.85733614dupA
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:603517.0008
Gene symbol:Gene id. BCL10:8915
Molecular consequence SO:0001589|frameshift variant
Allele origin somatic
dbSNP ID 587776636
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