All variants in the GALNT12 gene


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

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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     
+/. 6 c.1187A>G r.(?) p.(Tyr396Cys) - pathogenic g.101599405A>G g.98837123A>G - - GALNT12_000002 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
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