Full data view for gene SLURP1

Information The variants shown are described using the NM_020427.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
Legend   How to query  

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     
+/. - c.82del r.(?) p.(Cys28AlafsTer5) Unknown - pathogenic g.143823317del - SLURP1(NM_020427.3):c.82delT (p.C28Afs*5) - SLURP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline yes - - 0 - DNA SEQ - - MDM Fam1 PubMed: Fischer 2001 family - - Algeria - - 0 - - 3 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam2 PubMed: Fischer 2001 family - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam3 PubMed: Fischer 2001 family - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam6 PubMed: Fischer 2001 family - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam7 PubMed: Fischer 2001 family - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam9 PubMed: Fischer 2001 family - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam10 PubMed: Fischer 2001 family - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam11 PubMed: Fischer 2001 family - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam12 PubMed: Fischer 2001 family - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam14 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam16 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam17 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Fischer 2001 - - Germline - - - 0 - DNA SEQ - - MDM Fam18 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Charfeddine 2003 - - Germline yes - - 0 - DNA SEQ - - MDM Fam1 PubMed: Charfeddine 2003 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Tunisia - - 0 - - 3 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Charfeddine 2003 - - Germline yes - - 0 - DNA SEQ - - MDM Fam2 PubMed: Charfeddine 2003 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Tunisia - - 0 - - 1 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Charfeddine 2003 - - Germline yes - - 0 - DNA SEQ - - MDM Fam3 PubMed: Charfeddine 2003 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Tunisia - - 0 - - 2 Johan den Dunnen
+/. 2 c.82del r.(?) p.(Cys28AlafsTer5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 83delT - SLURP1_000002 - PubMed: Charfeddine 2003 - - Germline yes - - 0 - DNA SEQ - - MDM Fam4 PubMed: Charfeddine 2003 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - 0 - - 3 Johan den Dunnen
+/. - c.82del r.(?) p.(Cys28Alafs*5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del - - SLURP1_000002 - PubMed: Marrakchi 2003 - - Germline yes - - 0 - DNA SEQ - - MLYCDD Fam5 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Algeria - - 0 - - 1 Johan den Dunnen
+/. - c.82del r.(?) p.(Cys28Alafs*5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del - - SLURP1_000002 - PubMed: Marrakchi 2003 - - Germline yes - - 0 - DNA SEQ - - MADA Fam6 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Tunisia - - 0 - - 1 Johan den Dunnen
+/. - c.82del r.(?) p.(Cys28Alafs*5) Parent #2 - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Marrakchi 2003 - - Germline - - - 0 - DNA SEQ - - MANSB Fam8 PubMed: Marrakchi 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Scotland - - 0 - - 1 Johan den Dunnen
+/. - c.82del r.(?) p.(Cys28Alafs*5) Both (homozygous) - pathogenic (recessive) g.143823317del g.142741899del 82delT - SLURP1_000002 - PubMed: Ward 2003 - - Germline yes - - 0 - DNA SEQ - - MDM Fam1 PubMed: Ward 2003 3-generation family, 3 affected (3M) M yes - Kurdish - 0 - - 1 Johan den Dunnen
Legend   How to query