Full data view for gene HGSNAT

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.164T>A r.(?) p.(Leu55*) Both (homozygous) - pathogenic (recessive) g.43002136T>A g.43146993T>A - - HGSNAT_000082 2/11 MPSIIIC alleles in Paraiba, 2/23 alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA SEQ - - MPS3C Br1 PubMed: Martins 2019, Journal: Martins 2019 Brother Br2; origin: state of Paraiba M yes Brazil - - 0 - - 2 Carla Martins
+?/. 2 c.164T>A r.(?) p.(Leu55*) Both (homozygous) - pathogenic (recessive) g.43002136T>A g.43146993T>A - - HGSNAT_000082 2/11 MPSIIIC alleles in Paraiba, 2/23 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA SEQ - - MPS3C Br2 PubMed: Martins 2019, Journal: Martins 2019 Brother Br1; origin: state of Paraiba M yes Brazil - 15y10m 0 - - 1 Carla Martins
+?/. 2 c.164T>A r.(?) p.(Leu55*) Parent #1 - pathogenic (recessive) g.43002136T>A g.43146993T>A - - HGSNAT_000082 2/11 MPSIIIC alleles in Paraiba, 2/23 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA SEQ - - MPS3C Br3 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba M no Brazil - - 0 - - 1 Carla Martins
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