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     
-?/-? 4i c.424-14G>A r.(?) p.(?) - likely benign g.38631924G>A g.38339723G>A - - SPRED1_000126 novel Messiaen UAB, unpublished novel mutation - - De novo - - - 0 - Ludwine Messiaen
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