Full data view for gene SPRED1

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

11 entries on 1 page. Showing entries 1 - 11.
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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.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2009 phenotype of affected parent and 1 sibling of the proband described in {PMID19366998:Pasmant 2009} M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Spurlock 2009 phenotype of affected child of proband described in {PMID19443465:Spurlock 2009} F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - DNA SEQ blood - LGSS - Wimmer, MUI - F - - - - 0 - - 1 Ludwine Messiaen
?/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2014 phenotype of affected parent and 1 sibling of the proband described in {PMID19366998:Pasmant 2009}; no additional second somatic mutation found in the tumor cells of the proband - - ? (unknown) - - 0 - - 1 Beatrice Parfait
?/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2014 phenotype of affected parent and 1 sibling of the proband described in {PMID19366998:Pasmant 2009}; no additional second somatic mutation found in the tumor cells of the proband - - ? (unknown) - - 0 - - 1 Beatrice Parfait
?/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2014 phenotype of affected parent and 1 sibling of the proband described in {PMID19366998:Pasmant 2009}; no additional second somatic mutation found in the tumor cells of the proband - - ? (unknown) - - 0 - - 1 Beatrice Parfait
+/. - c.46C>T r.(?) p.(Arg16*) Unknown - pathogenic (dominant) g.38591587C>T - - - SPRED1_000011 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - ? - - - - - - - - - - - 1 Andri Miltiadous
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