All variants in the ASNS gene

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

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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     
+/. 12i c.1476+1G>A r.1321_1476del p.Asn441_Gln492del ACMG pathogenic (recessive) g.97482371C>T g.97853059C>T - - ASNS_000018 - - - - Germline yes - - 0 - Sandra Cooper
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