Full data view for 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.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.37C>T likely benign - - Unknown 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 - - - - - - - - - - - - - - - - - - -
?/. - c.65-111dup - - p.(=) Unknown g.70521876dup g.71302026dup - - ITGB1BP2_000001 - - - - Germline - - - - - DNA SEQ-NG-I, SEQ - - ?, CHTE - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-?/. - c.143T>G likely benign - - Unknown 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.650C>T likely benign - - Unknown 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 - - - - - - - - - - - - - - - - - - -
Legend