All variants in the GALNT12 gene


Information The variants shown are described using the NM_024642.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.868G>T r.(?) p.(Val290Phe) - VUS g.101594190G>T g.98831908G>T - - GALNT12_000023 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+?/. - c.868G>T r.(?) p.(Val290Phe) - likely pathogenic g.101594190G>T g.98831908G>T - - GALNT12_000023 - - - - Germline - - - 0 - Daniel Evans
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