Unique variants in the IBTK gene

Information The variants shown are described using the NM_015525.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

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     
-?/. 1 - c.1412G>A r.(?) p.(Ser471Asn) - likely benign g.82927691C>T g.82217974C>T IBTK(NM_015525.3):c.1412G>A (p.S471N) - IBTK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2812G>A r.(?) p.(Val938Ile) - likely benign g.82910404C>T g.82200687C>T IBTK(NM_015525.3):c.2812G>A (p.V938I) - IBTK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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