View genomic variant #0000000057

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.85733375_85733377del
Published as -
GERP -
Segregation -
DB-ID BCL10_000001 See all 2 reported entries
MSCV MSCV_0000057
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 0000000057 ?/? c.635_637del p.(Glu212del) - - - - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000454380;
Chromosome 1:85733374..85733374
ClinVar Allele ID 389438
Disease database name and identifier MedGen:CN169374
ClinVar preferred disease name not specified
HGVS variant names NC 000001.10:g.85733374C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. BCL10:8915
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 3768235
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000006636;
Chromosome 1:85733375..85733377
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 21297
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.85733375 85733377delCTT
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:603517.0009
Gene symbol:Gene id. BCL10:8915
Allele origin somatic
dbSNP ID 587776637
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