Unique variants in the TRIM37 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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 6i c.493-2A>G r.493_497delgaaag p.Arg166Cysfs*10 - pathogenic g.57157240T>C g.59079879T>C - - TRIM37_000002 Finnish major mutation (FINmajor): 50 Finnish MUL patients (48 hom and 2 com-het) PubMed: Avela et al. 2000 - rs186251998 SUMMARY record yes 0/95 FIN CON - - - Anne Polvi
+?/+? 1 13 c.1166A>G r.(1166a>g) p.(Tyr389Cys) - likely pathogenic g.57134269T>C g.59056908T>C - - TRIM37_000018 1 Finnish MUL patient (com-het) Hämäläinen, Lipsanen-Nyman, Lehesjoki, unpublished data - rs312262705 SUMMARY record yes 0/95 CEPH - - - Anne Polvi
+/+ 1 19 c.2212del r.2212delg p.Glu738Asnfs*31 - pathogenic g.57105822del g.59028461del - - TRIM37_000014 Finnish minor mutation (FINminor), 2 Finnish MUL patients (het) PubMed: Avela et al. 2000 - - SUMMARY record yes 0/316 CON - - - Anne Polvi
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