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     
?/. 1 c.356A>T r.(?) p.(Glu119Val) - VUS g.101570336A>T g.98808054A>T - - GALNT12_000010 - - - rs10987769 Germline - 0.018 - 0 - Michael Woods
-/. - c.356A>T r.(?) p.(Glu119Val) - benign g.101570336A>T g.98808054A>T - - GALNT12_000010 153 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1137654 Germline - 153/2792 individuals - 0 - Mohammed Faruq
-/. - c.356A>T r.(?) p.(Glu119Val) - benign g.101570336A>T g.98808054A>T - - GALNT12_000010 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1137654 Germline - 8/2792 individuals - 0 - Mohammed Faruq
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