Unique variants in the TYROBP gene

Information The variants shown are described using the NM_003332.3 transcript reference sequence.

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Effect     

Reported     

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     
+/+ 1 _1b_4i c.-2900_277-1238del r.0 p.0 - pathogenic g.36396774_36402030del g.35905872_35911128del deletion exons 1-4; PLOSL Fin - TYROBP_000003 1 more item PubMed: Paloneva 2000, PubMed: Paloneva 2002 - - SUMMARY record yes 0/120 FIN CON - - - Anne Polvi
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