All variants in the ASNS gene

Information The variants shown are described using the NM_133436.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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     
+/. - c.1193A>G r.(?) p.(Tyr398Cys) ACMG pathogenic g.97483937T>C g.97854625T>C - - ASNS_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
+/. - c.1193A>G r.(?) p.(Tyr398Cys) ACMG pathogenic g.97483937T>C g.97854625T>C - - ASNS_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
+?/. - c.1193A>G r.(?) p.(Tyr398Cys) - likely pathogenic g.97483937T>C g.97854625T>C - - ASNS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1193A>G r.(?) p.(Tyr398Cys) ACMG likely pathogenic g.97483937T>C g.97854625T>C NM_001178076.1:c.944A>G - ASNS_000001 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query