All variants in the NFKBIB gene

Information The variants shown are described using the NM_002503.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA 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     
?/. - c.*1814C>T r.(=) p.(=) - VUS g.39401286C>T g.38910646C>T CCER2(NM_001243212.1):c.628G>A (p.E210K) - NFKBIB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2096C>A r.(=) p.(=) - VUS g.39401568C>A g.38910928C>A CCER2(NM_001243212.1):c.346G>T (p.E116*) - NFKBIB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2229G>A r.(=) p.(=) - likely benign g.39401701G>A g.38911061G>A CCER2(NM_001243212.1):c.213C>T (p.H71=) - NFKBIB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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