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     
+?/+? 1 c.32+2T>C r.spl? p.(?) - likely pathogenic g.38545420T>C g.38253219T>C - - SPRED1_000117 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - Ludwine Messiaen
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