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     
+/+ 3 c.242_256del r.(?) p.(Ile81_Val85del) - pathogenic g.38614476_38614490del g.38322275_38322289del - - SPRED1_000022 5 amino acid deletion: Y82, K84 and V85 are evolutionary conserved / Domain: EVH-1 PubMed: Brems 2007 - - De novo - - - 0 - Ludwine Messiaen
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