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     
+/+ 5 c.460_463dup r.(?) p.(His155Argfs*13) - pathogenic g.38631974_38631977dup g.38339773_38339776dup - - SPRED1_000033 - PubMed: Laycock-van Spyk 2011 - - Germline - - - 0 - Ludwine Messiaen
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