All variants in the SPRED1 gene

Information The variants shown are described using the NM_152594.2 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     
+/+ 2 c.207+1G>T r.33_207del p.Asp11Glufs*52 - pathogenic g.38591749G>T g.38299548G>T - - SPRED1_000100 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - Ludwine Messiaen
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