Full data view for gene SPRED1

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

4 entries on 1 page. Showing entries 1 - 4.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 1 c.26A>T r.26a>u p.Asp9Val Unknown - VUS g.38545412A>T g.38253211A>T - - SPRED1_000001 Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Unknown - - - 0 - DNA, RNA SEQ blood - cafe-au-lait spots, multiple - Brems et al, 2012 - M - - - - 0 - - 1 Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val Unknown - VUS g.38545412A>T g.38253211A>T - - SPRED1_000001 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 / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Germline - - - 0 - DNA SEQ blood - NF1 - Messiaen UAB, unpublished also carries NF1 mutation c.3708G>A; also found in her brother who has NO signs F - - - - 0 - - 1 Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val Unknown - VUS g.38545412A>T g.38253211A>T - - SPRED1_000001 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 / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Unknown - - - 0 - DNA SEQ blood - cafe-au-lait spots, multiple - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val Unknown - VUS g.38545412A>T g.38253211A>T - - SPRED1_000001 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 / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Unknown - - - 0 - DNA SEQ blood - ? - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
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