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     
+/+ 3i c.377-2G r.377_423del p.Cys127Lysfs*2 - pathogenic g.38616962G>A - c.377-2G>A - SPRED1_000080 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Brems et al, 2012 - - Unknown - - - 0 - Ludwine Messiaen
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