Unique variants in gene ITGB1BP2

Information The variants shown are described using the NM_012278.1 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.-4436T>G r.(?) p.(=) - VUS g.70517221T>G g.71297371T>G NONO(NM_001145408.1):c.944-6T>G (p.(=)) - NONO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-3881C>T r.(?) p.(=) - likely benign g.70517776C>T g.71297926C>T NONO(NM_001145408.1):c.1119C>T (p.T373=) - ITGB1BP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3062G>A r.(?) p.(=) - likely benign g.70518595G>A g.71298745G>A NONO(NM_001145408.1):c.1210G>A (p.A404T) - NONO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.37C>T r.(?) p.(His13Tyr) - VUS g.70521693C>T g.71301843C>T ITGB1BP2(NM_012278.1):c.37C>T (p.(His13Tyr)) - ITGB1BP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.65-111dup r.(=) p.(=) - VUS g.70521876dup g.71302026dup - - ITGB1BP2_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.143T>G r.(?) p.(Val48Gly) - VUS g.70522155T>G g.71302305T>G ITGB1BP2(NM_012278.1):c.143T>G (p.(Val48Gly)) - ITGB1BP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.427A>T r.(?) p.(Ile143Phe) - VUS g.70523325A>T g.71303475A>T ITGB1BP2(NM_012278.3):c.427A>T (p.I143F) - ITGB1BP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.430C>T r.(?) p.(Arg144Trp) - likely benign g.70523328C>T g.71303478C>T ITGB1BP2(NM_012278.3):c.430C>T (p.R144W) - ITGB1BP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.650C>T r.(?) p.(Ser217Phe) - - g.70524047C>T - ITGB1BP2(NM_012278.3):c.650C>T (p.S217F) - ITGB1BP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.812G>T r.(?) p.(Trp271Leu) - - g.70524450G>T - ITGB1BP2(NM_012278.3):c.812G>T (p.W271L) - chrX_016482 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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