Full data view for gene SPRED1

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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 2 c.148C>T r.148c>u p.(Gln50*) Unknown - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 De novo - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.148C>T r.148c>u p.(Gln50*) Unknown - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 Germline - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA SEQ blood - LGSS - PubMed: Brems 2007 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA SEQ blood - LGSS - PubMed: Pasmant 2009 ; phenotype of 4 affected first- and second-degree relatives of proband described in {PMID19366998:Pasmant 2009} M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA SEQ blood - LGSS - PubMed: Denayer 2011a phenotype of affected son of proband described in {PMID21089071:Denayer 2011a} F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA SEQ blood - LGSS - PubMed: Denayer 2011a - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - Messiaen UAB, unpublished - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA, RNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
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