All variants in the HGSNAT gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 3i c.372-2A>G r.spl p.? - pathogenic g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Coutinho 2008 - - Germline - - - 0 - Stéphanie Durand
+/. - c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 - rs483352896 Germline - - - 0 - Carla Martins
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - Carla Martins
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - Carla Martins
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - Carla Martins
+?/. 3i c.372-2A>G r.(?) p.(?) - likely pathogenic g.43014064A>G g.43158921A>G HGSNAT IVS3 c.372-2A>G p.(?), Ex.18 c.1843G>A p.(Ala615Thr), ABCA4: Ex.23 c.3386G>T p.(Arg1129Leu) - HGSNAT_000042 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - 0 - LOVD
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