All variants in the SPRED1 gene

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     

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.52C>T r.(?) p.(Arg18Ter) - pathogenic g.38591593C>T g.38299392C>T SPRED1(NM_152594.2):c.52C>T (p.R18*) - SPRED1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1 PubMed: Messiaen 2009 - - De novo - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1 PubMed: Messiaen 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - De novo - - - 0 - Ludwine Messiaen
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