Full data view for gene NFKBIA

Information The variants shown are described using the NM_020529.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.40G>T r.40g>u p.Phe2_Met37del Unknown - pathogenic (dominant) g.35873811C>A g.35404605C>A Glu14X - NFKBIA_000007 - PubMed: Lopez-Granados 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - EDAID 18412279-Pat PubMed: Lopez-Granados 2008 - M no United States white - - - - 1 Johan den Dunnen
-/. - c.81C>T r.(?) p.(Asp27=) Unknown - benign g.35873770G>A g.35404564G>A NFKBIA(NM_020529.3):c.81C>T (p.D27=) - NFKBIA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.243C>T r.(?) p.(Ala81=) Unknown - benign g.35872989G>A - NFKBIA(NM_020529.2):c.243C>T (p.A81=) - NFKBIA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.271A>C r.(?) p.(Met91Leu) Unknown - likely benign g.35872961T>G - NFKBIA(NM_020529.2):c.271A>C (p.(Met91Leu)) - NFKBIA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306C>T r.(?) p.(Ala102=) Unknown - benign g.35872926G>A g.35403720G>A NFKBIA(NM_020529.3):c.306C>T (p.A102=) - NFKBIA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548-3C>T r.spl? p.? Unknown - likely benign g.35872068G>A g.35402862G>A NFKBIA(NM_020529.2):c.548-3C>T, NFKBIA(NM_020529.3):c.548-3C>T - NFKBIA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548-3C>T r.spl? p.? Unknown - likely benign g.35872068G>A g.35402862G>A NFKBIA(NM_020529.2):c.548-3C>T, NFKBIA(NM_020529.3):c.548-3C>T - NFKBIA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.554C>T r.(?) p.(Thr185Met) Unknown - likely benign g.35872059G>A g.35402853G>A NFKBIA(NM_020529.2):c.554C>T (p.T185M), NFKBIA(NM_020529.3):c.554C>T (p.T185M) - NFKBIA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.554C>T r.(?) p.(Thr185Met) Unknown - VUS g.35872059G>A - NFKBIA(NM_020529.2):c.554C>T (p.T185M), NFKBIA(NM_020529.3):c.554C>T (p.T185M) - NFKBIA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.554C>T r.(?) p.(Thr185Met) Unknown - likely benign g.35872059G>A - NFKBIA(NM_020529.2):c.554C>T (p.T185M), NFKBIA(NM_020529.3):c.554C>T (p.T185M) - NFKBIA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.581G>C r.(?) p.(Gly194Ala) Unknown - benign g.35872032C>G - NFKBIA(NM_020529.2):c.581G>C (p.G194A) - NFKBIA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682C>G r.(?) p.(Gln228Glu) Unknown - VUS g.35871824G>C g.35402618G>C NFKBIA(NM_020529.2):c.682C>G (p.Q228E), NFKBIA(NM_020529.3):c.682C>G (p.Q228E) - NFKBIA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682C>G r.(?) p.(Gln228Glu) Unknown - VUS g.35871824G>C - NFKBIA(NM_020529.2):c.682C>G (p.Q228E), NFKBIA(NM_020529.3):c.682C>G (p.Q228E) - NFKBIA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.791G>A r.(?) p.(Arg264Gln) Unknown - likely benign g.35871715C>T - NFKBIA(NM_020529.2):c.791G>A (p.R264Q) - NFKBIA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.847A>T r.(?) p.(Ser283Cys) Unknown - VUS g.35871659T>A g.35402453T>A NFKBIA(NM_020529.2):c.847A>T (p.S283C) - NFKBIA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.847A>T r.(?) p.(Ser283Cys) Unknown - VUS g.35871659T>A g.35402453T>A NFKBIA(NM_020529.2):c.847A>T (p.S283C) - NFKBIA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.847A>T r.(?) p.(Ser283Cys) Paternal (confirmed) ACMG VUS g.35871659T>A g.35402453T>A - - NFKBIA_000008 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat77,1 PubMed: Stray-Pedersen 2017 - F - Chile - 5y - - - 1 Johan den Dunnen
-?/. - c.888G>A r.(?) p.(Thr296=) Unknown - likely benign g.35871618C>T - NFKBIA(NM_020529.2):c.888G>A (p.T296=) - NFKBIA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.907-9T>G r.(=) p.(=) Unknown - likely benign g.35871275A>C - NFKBIA(NM_020529.2):c.907-9T>G - NFKBIA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.948G>A r.(?) p.(=) Unknown - likely benign g.35871225C>T - NFKBIA(NM_020529.2):c.948G>A (p.T316=) - NFKBIA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2C>T r.(=) p.(=) Unknown - benign g.35871217G>A g.35402011G>A NFKBIA(NM_020529.3):c.*2C>T - NFKBIA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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