Genomic variant #0000000061

Chromosome 1
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
Type ins
DNA change (genomic) (Relative to hg19 / GRCh37) g.85733613_85733614insA
Published as -
GERP -
Segregation -
DB-ID BCL10_000005
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
BCL10 NM_003921.4 ?/? c.398_399insT p.(Ser134Leufs*7) - - - - r.(?) -


ClinVar @ MSeqDR

21296
MedGen:C0024301,Orphanet:ORPHA545,SNOMED CT:55150002
Follicular lymphoma
HGVS variant names NC 000001.10:g.85733614dupA
no assertion criteria provided
Clinical Significance
Duplication
SO:1000035
OMIM Allelic Variant:603517.0008
Gene symbol:Gene id. BCL10:8915
SO:0001589|frameshift variant
2
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