All variants in the IBSP gene

Information The variants shown are described using the NM_004967.3 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.357G>A r.(?) p.(Thr119=) - likely benign g.88731868G>A g.87810716G>A IBSP(NM_004967.4):c.357G>A (p.T119=) - IBSP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.857G>T r.(?) p.(Arg286Leu) - likely pathogenic g.88732965G>T g.87811813G>T NM_004967.3(IBSP):c.857G>T p.(Arg286Leu) - IBSP_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
?/. - c.922T>C r.(?) p.(Tyr308His) - VUS g.88733030T>C g.87811878T>C IBSP(NM_004967.4):c.922T>C (p.Y308H) - IBSP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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