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     
?/. - c.1312G>A r.(?) p.(Ala438Thr) - VUS g.43047508G>A g.43192365G>A - - HGSNAT_000100 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201901263 Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
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