All variants in the HGSNAT gene

Information The variants shown are described using the NM_152419.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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.688A>G r.(?) p.(Thr230Ala) - likely benign g.43025782A>G g.43170639A>G HGSNAT(NM_001363227.1):c.688A>G (p.T230A), HGSNAT(NM_152419.2):c.688A>G (p.(Thr230Ala)) - HGSNAT_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.688A>G r.(?) p.(Thr230Ala) - likely benign g.43025782A>G - HGSNAT(NM_001363227.1):c.688A>G (p.T230A), HGSNAT(NM_152419.2):c.688A>G (p.(Thr230Ala)) - HGSNAT_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query