All variants in the HGSNAT gene

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

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/+ 9 c.848C>T r.(?) p.(Pro283Leu) - pathogenic g.43028883C>T g.43173740C>T c.932C>T - HGSNAT_000003 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/+ 9 c.848C>T r.(?) p.(Pro283Leu) - pathogenic g.43028883C>T g.43173740C>T c.932C>T - HGSNAT_000003 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/+ 9 c.848C>T r.(?) p.(Pro283Leu) - pathogenic g.43028883C>T g.43173740C>T c.932C>T - HGSNAT_000003 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/. 9 c.848C>T r.(?) p.(Pro283Leu) - pathogenic (recessive) g.43028883C>T g.43173740C>T - - HGSNAT_000003 - PubMed: Martins 2019, Journal: Martins 2019 1232 rs121908282 Germline - - - 0 - Carla Martins
+/. - c.848C>T r.(?) p.(Pro283Leu) - pathogenic g.43028883C>T g.43173740C>T - - HGSNAT_000003 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121908282 Germline - 2/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
+/. - c.848C>T r.(?) p.(Pro283Leu) - pathogenic g.43028883C>T g.43173740C>T HGSNAT(NM_152419.2):c.848C>T (p.P283L) - HGSNAT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.848C>T r.(?) p.(Pro283Leu) - pathogenic (recessive) g.43028883C>T - 8:43028883C>T ENST00000379644.4:c.848C>T (Pro283Leu) - HGSNAT_000003 - PubMed: Carss 2017 - - Germline - - - 0 - LOVD
+?/. - c.848C>T r.(?) p.(Pro283Leu) - likely pathogenic g.43028883C>T g.43173740C>T HGSNAT c.848C>T, p.Pro283Leu - HGSNAT_000003 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - LOVD
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