Genomic variant #0000000058

Chromosome 1
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.85733471_85733487del
Published as -
GERP -
Segregation -
DB-ID BCL10_000002
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.525_541del p.(Val176Asnfs*2) - - - - r.(?) -


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None