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.719C>T r.(?) p.(Pro240Leu) - VUS g.101589211C>T g.98826929C>T - - GALNT12_000035 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs59362219 Germline - 3/2795 individuals - 0 - Mohammed Faruq
+/. - c.719C>T r.(?) p.(Pro240Leu) - VUS g.101589211C>T g.98826929C>T - - GALNT12_000035 - PubMed: Jiang 2022 - - Germline/De novo (untested) - >1/309 cases - 0 - Johan den Dunnen
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