All variants in the BAI2 gene

NOTE: gene name changed from BAI2 to ADGRB2
Information The variants shown are described using the NM_001703.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

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     
./. - c.1643C>T r.(?) p.(Ala548Val) - likely pathogenic g.32207269G>A g.31741668G>A NM_001294335.1(ADGRB2):c.1643C>T p.(Ala548Val) - BAI2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
?/. - c.1643C>T r.(?) p.(Ala548Val) - VUS g.32207269G>A - BAI2(NM_001703.2):c.1643C>T (p.(Ala548Val)) - BAI2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.2758C>A r.(?) p.(Pro920Thr) - likely pathogenic g.32203815G>T g.31738214G>T NM_001294335.1(ADGRB2):c.2758C>A p.(Pro920Thr) - BAI2_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
?/. - c.3676G>C r.(?) p.(Glu1226Gln) - VUS g.32198162C>G - ADGRB2(NM_001294335.1):c.3676G>C (p.(Glu1226Gln)) - BAI2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3859G>A r.(?) p.(Val1287Met) - likely benign g.32196922C>T - ADGRB2(NM_001294335.1):c.3859G>A (p.V1287M) - BAI2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4508C>T r.(?) p.(Thr1503Met) - VUS g.32193790G>A - NM_001294335.1:c.4505C>T - BAI2_000005 - PubMed: Díaz-Gonzalez 2021 - - Germline - - - - - Johan den Dunnen
?/. - c.4684C>T r.(?) p.(Arg1562Trp) - VUS g.32193095G>A - ADGRB2(NM_001294335.1):c.4681C>T (p.R1561W) - BAI2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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