Unique variants in gene ITGB1BP2

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

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 VUS r.(?) p.(=) g.70517221T>G - NONO(NM_001145408.1):c.944-6T>G (p.(=)) - NONO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.-3062G>A likely benign r.(?) p.(=) g.70518595G>A - NONO(NM_001145408.1):c.1210G>A (p.(Ala404Thr), p.(Ala315Thr)) - NONO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.37C>T VUS r.(?) p.(His13Tyr) g.70521693C>T - ITGB1BP2(NM_012278.1):c.37C>T (p.(His13Tyr)) - ITGB1BP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.65-111dup VUS r.(=) p.(=) g.70521876dup g.71302026dup - - ITGB1BP2_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.143T>G VUS r.(?) p.(Val48Gly) g.70522155T>G - ITGB1BP2(NM_012278.1):c.143T>G (p.(Val48Gly)) - ITGB1BP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.427A>T VUS r.(?) p.(Ile143Phe) g.70523325A>T - ITGB1BP2(NM_012278.2):c.427A>T (p.I143F) - ITGB1BP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.430C>T likely benign r.(?) p.(Arg144Trp) g.70523328C>T - ITGB1BP2(NM_012278.2):c.430C>T (p.R144W) - ITGB1BP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.650C>T likely benign r.(?) p.(Ser217Phe) g.70524047C>T - ITGB1BP2(NM_012278.1):c.650C>T (p.(Ser217Phe)) - ITGB1BP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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