All variants in the SPRED1 gene

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

12 entries on 1 page. Showing entries 1 - 12.
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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.46C>T r.(?) p.(Arg16Ter) - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 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-S56; UAB-S81; UAB-S89-2); no additional second somatic mutation found in the tumor cells of the proband / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 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-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 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-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Ludwine Messiaen
?/+ 2 c.46C>T r.46c>u p.Arg16* - VUS g.38591587C>T g.38299386C>T - - SPRED1_000011 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-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Beatrice Parfait
?/+ 2 c.46C>T r.46c>u p.Arg16* - VUS g.38591587C>T g.38299386C>T - - SPRED1_000011 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-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Beatrice Parfait
?/+ 2 c.46C>T r.46c>u p.Arg16* - VUS g.38591587C>T g.38299386C>T - - SPRED1_000011 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-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Beatrice Parfait
+/. - c.46C>T r.(?) p.(Arg16*) - pathogenic (dominant) g.38591587C>T - - - SPRED1_000011 - - - - Germline/De novo (untested) - - - 0 - Andri Miltiadous
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