All variants in the HGSNAT gene

Information The variants shown are described using the NM_152419.2 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     
+/. 13 c.1267G>T r.(?) p.(Gly423Trp) - pathogenic (recessive) g.43047463G>T g.43192320G>T - - HGSNAT_000085 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
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