All variants in the GALNT12 gene


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

3 entries on 1 page. Showing entries 1 - 3.
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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.1497C>T r.(?) p.(Asn499=) - likely benign g.101608297C>T g.98846015C>T GALNT12(NM_024642.4):c.1497C>T (p.N499=) - GALNT12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. 9 c.1497C>T r.(?) p.(=) - VUS g.101608297C>T g.98846015C>T - - GALNT12_000005 - - - rs35632007 Germline - 0.008 - 0 - Michael Woods
?/. 9 c.1497C>T r.(?) p.(=) - VUS g.101608297C>T g.98846015C>T - - GALNT12_000005 - - - rs35632007 Germline - 1/206 - 0 - Laura Valle
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