All variants in the SPRED1 gene

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

8 entries on 1 page. Showing entries 1 - 8.
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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.190C>T r.(?) p.(Arg64Ter) - pathogenic g.38591731C>T g.38299530C>T SPRED1(NM_152594.2):c.190C>T (p.R64*) - SPRED1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.190C>T r.190c>u p.Arg64* - 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 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - 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 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - 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 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - 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 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - 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 - Ludwine Messiaen
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