Full data view for gene IKBKG

Information The variants shown are described using the NM_003639.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 3 c.337G>A - r.(?) p.(Asp113Asn) Parent #1 g.153784529G>A - - - IKBKG_000001 recurrent change, found twice in individuals with X-linked mental retardation (MRX), for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.337G>A VUS r.(?) p.(Asp113Asn) Unknown g.153784529G>A - IKBKG(NM_001099857.2):c.337G>A (p.D113N) - IKBKG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.337G>A likely benign r.(?) p.(Asp113Asn) Unknown g.153784529G>A - IKBKG(NM_001099857.2):c.337G>A (p.D113N) - IKBKG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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