Full data view for gene SPRED1

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

13 entries on 1 page. Showing entries 1 - 13.
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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.70C>T r.(?) p.(Arg24*) Parent #1 - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.70C>T r.(?) p.(Arg24Ter) Unknown - pathogenic g.38591611C>T g.38299410C>T SPRED1(NM_152594.2):c.70C>T (p.R24*) - SPRED1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 description of c.70C>T 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-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA SEQ blood - LGSS - PubMed: Brems 2007 phenotype of 6 affected relatives is debribed in {PMID17704776:Brems 2007} M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 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-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - De novo - - - 0 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 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-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 phenotype of 2 affected siblings of the proband described in {PMID19920235:Messiaen 2009} F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 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-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA SEQ blood - LGSS - PubMed: Denayer 2011a phenotype of affected child of the proband described in {PMID21089071:Denayer 2011a} M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
?/+ 2 c.70C>T r.70c>u p.(Arg24*) Unknown - VUS g.38591611C>T g.38299410C>T - - SPRED1_000014 description of c.70C>T 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-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA SEQ blood - LGSS - PubMed: Pasmant 2014 - - - - - - 0 - - 1 Beatrice Parfait
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/. 2 c.70C>T r.(?) p.(Arg24*) Unknown ACMG pathogenic (dominant) g.38591611C>T - - - SPRED1_000014 ACMG: PVS1, PM2, PS4_SUP: class 5 PMID: 17704776, 19920235, 21089071 - rs121434313 Germline ? - - - - DNA SEQ-NG-I - - LGSS 173925 - - F ? ? (unknown) - - 0 - - 1 Andreas Laner
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