Full data view for gene HGSNAT

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) Both (homozygous) - pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES retinal disease FamAPatII1 PubMed: Haer-Wigman 2015 2-generation family, 1affected, unaffected heterozygous carrier parents F - Israel Jewish-Ashkenazi - 0 - - 1 Johan den Dunnen
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) Both (homozygous) - pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - retinal disease FamBPatII1/2 PubMed: Haer-Wigman 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Israel Jewish-Ashkenazi - 0 - - 2 Johan den Dunnen
+/. - c.370A>T r.(?) p.(Arg124Trp) Unknown ACMG pathogenic g.43013853A>T - - - HGSNAT_000124 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - 0 - - 3 Global Variome, with Curator vacancy
+/. - c.370A>T r.spl p.(Cys79Valfs*20) Both (homozygous) - pathogenic (recessive) g.43013853A>T - - - HGSNAT_000124 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Kimchi 2018, PubMed: Sharon 2019 2 families - - Israel - - 0 - - 2 Johan den Dunnen
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