Screening #0000001214

Individual ID 00001443
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Francesca Fusco


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma X q28 1 1562 99 2019-08-05 AMCBX-1, EDAID, EDAID-1, ID, IMDI, IP-2, IPD-2, OLEDAID



Variants found

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
X Unknown ?/? g.153788765C>A - - - IKBKG_000039 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - Francesca Fusco IKBKG - - - - - 5 NM_003639.3:c.662C>A - - r.(?) p.(Ser221*) - - - - - - - - - - - - - - - - - - -
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