All transcript variants in gene ITGB1BP2

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

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     
-?/. - c.37C>T likely benign - - g.70521693C>T - ITGB1BP2:NM_001145408.1:c.*1767C>T, NM_001145409.1:c.*1767C>T, … - ITGB1BP2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.65-111dup - - p.(=) g.70521876dup g.71302026dup - - ITGB1BP2_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.143T>G likely benign - - g.70522155T>G - ITGB1BP2:NM_012278.1:c.143T>G - ITGB1BP2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.650C>T likely benign - - g.70524047C>T - ITGB1BP2:NM_001145408.1:c.*4121C>T, NM_001145409.1:c.*4121C>T, … - ITGB1BP2_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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