All variants in the SPRED1 gene

Information The variants shown are described using the NM_152594.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. - c.305del r.(?) p.(Thr102SerfsTer19) - pathogenic g.38614539del g.38322338del SPRED1(NM_152594.2):c.305delC (p.T102Sfs*19) - SPRED1_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 3 c.305del r.305delc p.Thr102Serfs*19 - pathogenic g.38614539del g.38322338del - - SPRED1_000027 Domain: EVH-1 PubMed: Spencer 2011 - - Unknown - - - 0 - Ludwine Messiaen
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