Full data view for gene SLURP1

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

49 entries on 1 page. Showing entries 1 - 49.
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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     
+/. - c.1A>C r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.143823803T>G g.142742385T>G 578A>C - SLURP1_000009 - PubMed: Eckl 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam4 PubMed: Eckl 2003 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M - Germany - - - - - 4 Johan den Dunnen
+/. - c.43T>C r.(?) p.(Trp15Arg) Both (homozygous) - pathogenic (recessive) g.143823761A>G g.142742343A>G 620T>C - SLURP1_000004 - PubMed: Eckl 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam3 PubMed: Eckl 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes United Arab Emirates Bedouin - - - - 1 Johan den Dunnen
+/. - c.43T>C r.(?) p.(Trp15Arg) Both (homozygous) - pathogenic (recessive) g.143823761A>G g.142742343A>G - - SLURP1_000004 - PubMed: Marrakchi 2003 - - Germline yes - - - - DNA SEQ - - MANSA Fam7 PubMed: Marrakchi 2003 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Germany - - - - - 1 Johan den Dunnen
+/. - c.43T>C r.(?) p.(Trp15Arg) Parent #1 - pathogenic (recessive) g.143823761A>G g.142742343A>G - - SLURP1_000004 - PubMed: Marrakchi 2003 - - Germline - - - - - DNA SEQ - - MANSB Fam8 PubMed: Marrakchi 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Scotland - - - - - 1 Johan den Dunnen
+/. - c.43T>C r.(?) p.(Trp15Arg) Unknown - pathogenic g.143823761A>G - SLURP1(NM_020427.3):c.43T>C (p.W15R) - SLURP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.43T>C r.(?) p.(Trp15Arg) Unknown - pathogenic g.143823761A>G - SLURP1(NM_020427.3):c.43T>C (p.W15R) - SLURP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - - DNA SEQ - - MDM Fam1 PubMed: Fischer 2001 family - - Algeria - - - - - 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 - - - - - DNA SEQ - - MDM Fam2 PubMed: Fischer 2001 family - - Algeria - - - - - 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 - - - - - DNA SEQ - - MDM Fam3 PubMed: Fischer 2001 family - - Algeria - - - - - 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 - - - - - DNA SEQ - - MDM Fam6 PubMed: Fischer 2001 family - - Algeria - - - - - 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 - - - - - DNA SEQ - - MDM Fam7 PubMed: Fischer 2001 family - - Algeria - - - - - 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 - - - - - DNA SEQ - - MDM Fam9 PubMed: Fischer 2001 family - - Algeria - - - - - 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 - - - - - DNA SEQ - - MDM Fam10 PubMed: Fischer 2001 family - - Algeria - - - - - 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 - - - - - DNA SEQ - - MDM Fam11 PubMed: Fischer 2001 family - - Algeria - - - - - 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 - - - - - DNA SEQ - - MDM Fam12 PubMed: Fischer 2001 family - - Algeria - - - - - 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 - - - - - DNA SEQ - - MDM Fam14 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - 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 - - - - - DNA SEQ - - MDM Fam16 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - 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 - - - - - DNA SEQ - - MDM Fam17 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - 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 - - - - - DNA SEQ - - MDM Fam18 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - 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 - - - - DNA SEQ - - MDM Fam1 PubMed: Charfeddine 2003 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - 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 - - - - DNA SEQ - - MDM Fam2 PubMed: Charfeddine 2003 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Tunisia - - - - - 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 - - - - DNA SEQ - - MDM Fam3 PubMed: Charfeddine 2003 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - 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 - - - - DNA SEQ - - MDM Fam4 PubMed: Charfeddine 2003 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - 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 - - - - DNA SEQ - - MLYCDD Fam5 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Algeria - - - - - 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 - - - - DNA SEQ - - MADA Fam6 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - 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 - - - - - DNA SEQ - - MANSB Fam8 PubMed: Marrakchi 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Scotland - - - - - 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 - - - - DNA SEQ - - MDM Fam1 PubMed: Ward 2003 3-generation family, 3 affected (3M) M yes - Kurdish - - - - 1 Johan den Dunnen
+/. 2i c.178+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.143823220C>T g.142741802C>T - - SLURP1_000008 - PubMed: Fischer 2001 - - Germline - - - - - DNA SEQ - - MDM Fam4 PubMed: Fischer 2001 family - - Algeria - - - - - 1 Johan den Dunnen
+/. 2i c.178+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.143823220C>T g.142741802C>T - - SLURP1_000008 - PubMed: Fischer 2001 - - Germline - - - - - DNA SEQ - - MDM Fam5 PubMed: Fischer 2001 family - - Algeria - - - - - 1 Johan den Dunnen
+/. 2i c.178+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.143823220C>T g.142741802C>T - - SLURP1_000008 - PubMed: Fischer 2001 - - Germline - - - - - DNA SEQ - - MDM Fam8 PubMed: Fischer 2001 family - - Algeria - - - - - 1 Johan den Dunnen
+/. - c.178+1G>A r.(?) p.? Both (homozygous) - pathogenic (recessive) g.143823220C>T g.142741802C>T - - SLURP1_000008 - PubMed: Marrakchi 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam2 PubMed: Marrakchi 2003 5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F;M yes Algeria - - - - - 4 Johan den Dunnen
+/. - c.178+1G>A r.(?) p.? Both (homozygous) - pathogenic (recessive) g.143823220C>T g.142741802C>T - - SLURP1_000008 - PubMed: Marrakchi 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam3 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - - - - 1 Johan den Dunnen
+/. - c.178+1G>A r.(?) p.? Both (homozygous) - pathogenic (recessive) g.143823220C>T g.142741802C>T - - SLURP1_000008 - PubMed: Marrakchi 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam4 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - - - - 1 Johan den Dunnen
?/. - c.179A>G r.(?) p.(Glu60Gly) Unknown - VUS g.143822694T>C - SLURP1(NM_020427.2):c.179A>G (p.E60G) - SLURP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.212G>C r.(?) p.(Arg71Pro) Unknown - likely pathogenic g.143822661C>G - - - SLURP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.229C>T r.(?) p.(Cys77Arg) Both (homozygous) - pathogenic (recessive) g.143822644A>G g.142741226A>G C77A - SLURP1_000007 - PubMed: Charfeddine 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam5 PubMed: Charfeddine 2003 5-generation family, 1 affecteds, unaffected heterozygous carrier parents/relatives M yes Tunisia - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Cys77Arg) Both (homozygous) - pathogenic (recessive) g.143822644A>G g.142741226A>G C77A - SLURP1_000007 - PubMed: Charfeddine 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam6 PubMed: Charfeddine 2003 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Tunisia - - - - - 2 Johan den Dunnen
+/. - c.256G>A r.(?) p.(Gly86Arg) Both (homozygous) - pathogenic (recessive) g.143822617C>T g.142741199C>T 1784G>A - SLURP1_000006 - PubMed: Eckl 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam1 PubMed: Eckl 2003 9-generation family, 13 affected (8F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Palestine - - - - - 13 Johan den Dunnen
+/. - c.256G>A r.(?) p.(Gly86Arg) Both (homozygous) - pathogenic (recessive) g.143822617C>T g.142741199C>T 1785G>A - SLURP1_000006 - PubMed: Eckl 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam2 PubMed: Eckl 2003 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 2 Johan den Dunnen
?/. - c.275T>G r.(?) p.(Phe92Cys) Unknown - VUS g.143822598A>C - - - SLURP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.286C>T r.(?) p.(Arg96Ter) Unknown - pathogenic g.143822587G>A - SLURP1(NM_020427.3):c.286C>T (p.R96*) - SLURP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.286C>T r.(?) p.(Arg96Ter) Both (homozygous) - pathogenic (recessive) g.143822587G>A g.142741169G>A C286T - SLURP1_000001 - PubMed: Fischer 2001 - - Germline - - - - - DNA SEQ - - MDM Fam13 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 3 c.286C>T r.(?) p.(Arg96Ter) Both (homozygous) - pathogenic (recessive) g.143822587G>A g.142741169G>A C286T - SLURP1_000001 - PubMed: Fischer 2001 - - Germline - - - - - DNA SEQ - - MDM Fam15 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 3 c.286C>T r.(?) p.(Arg96Ter) Both (homozygous) - pathogenic (recessive) g.143822587G>A g.142741169G>A C286T - SLURP1_000001 - PubMed: Fischer 2001 - - Germline - - - - - DNA SEQ - - MDM Fam19 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. - c.286C>T r.(?) p.(Arg96*) Both (homozygous) - pathogenic (recessive) g.143822587G>A - C286T - SLURP1_000001 - PubMed: Ward 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam2 PubMed: Ward 2003 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M yes Turkey - - - - - 2 Johan den Dunnen
+/. 3 c.296G>A r.(?) p.(Cys99Tyr) Both (homozygous) - pathogenic (recessive) g.143822577C>T g.142741159C>T C79Y - SLURP1_000005 - PubMed: Charfeddine 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam7 PubMed: Charfeddine 2003 4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - 5 Johan den Dunnen
+/. 3 c.296G>A r.(?) p.(Cys99Tyr) Both (homozygous) - pathogenic (recessive) g.143822577C>T g.142741159C>T C79Y - SLURP1_000005 - PubMed: Charfeddine 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam8 PubMed: Charfeddine 2003 3-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - 3 Johan den Dunnen
+/. - c.296G>A r.(?) p.(Cys99Tyr) Both (homozygous) - pathogenic (recessive) g.143822577C>T g.142741159C>T - - SLURP1_000005 - PubMed: Marrakchi 2003 - - Germline yes - - - - DNA SEQ - - MDM Fam1 PubMed: Marrakchi 2003 7-generation family, 21 affected (10F, 11M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - 21 Johan den Dunnen
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