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.
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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     
+?/. 15 c.1479dup r.(?) p.(Leu494Ilefs*33) - pathogenic (recessive) g.43052105dup g.43196961dup - - HGSNAT_000083 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
+/. - c.1479dup r.(?) p.(Leu494IlefsTer33) - pathogenic g.43052105dup g.43196962dup HGSNAT(NM_152419.2):c.1479dupA (p.L494Ifs*33) - HGSNAT_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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