All variants in the SPRED1 gene

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

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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     
+/+ 2 c.148C>T r.148c>u p.(Gln50*) - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000008 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.148C>T r.148c>u p.(Gln50*) - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 De novo - - - 0 - Ludwine Messiaen
+/+ 2 c.148C>T r.148c>u p.(Gln50*) - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 Germline - - - 0 - Ludwine Messiaen
Legend   How to query