Unique variants in the IBA57 gene

Information The variants shown are described using the NM_001010867.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

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.35C>A r.(?) p.(Pro12Gln) - VUS g.228353552C>A g.228165851C>A IBA57(NM_001010867.3):c.35C>A (p.P12Q) - IBA57_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.204C>T r.(?) p.(Pro68=) - likely benign g.228353721C>T g.228166020C>T IBA57(NM_001010867.3):c.204C>T (p.P68=) - IBA57_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.246T>G r.(?) p.(Ser82Arg) - likely benign g.228353763T>G - IBA57(NM_001010867.3):c.246T>G (p.S82R) - IBA57_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.287A>T r.(?) p.(Tyr96Phe) - VUS g.228353804A>T g.228166103A>T - - IBA57_000004 - - - - Unknown - - - - - Gunnar Schmidt
-?/. 1 - c.300G>C r.(?) p.(Leu100=) - likely benign g.228353817G>C - IBA57(NM_001010867.3):c.300G>C (p.L100=) - IBA57_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.599C>T r.(?) p.(Thr200Ile) - likely benign g.228362650C>T - IBA57(NM_001010867.3):c.599C>T (p.T200I) - IBA57_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.848G>A r.(?) p.(Arg283Gln) - VUS g.228362991G>A - IBA57(NM_001010867.3):c.848G>A (p.R283Q) - IBA57_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948C>T r.(?) p.(Asn316=) - likely benign g.228363091C>T - IBA57(NM_001010867.3):c.948C>T (p.N316=) - IBA57_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.980T>C r.(?) p.(Ile327Thr) - benign g.228363123T>C g.228175422T>C IBA57(NM_001010867.3):c.980T>C (p.I327T) - IBA57_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query