All variants in the SLURP1 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.82del r.(?) p.(Cys28AlafsTer5) - pathogenic g.143823317del - SLURP1(NM_020427.3):c.82delT (p.C28Afs*5) - SLURP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.179A>G r.(?) p.(Glu60Gly) - VUS g.143822694T>C - SLURP1(NM_020427.2):c.179A>G (p.E60G) - SLURP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.286C>T r.(?) p.(Arg96Ter) - pathogenic g.143822587G>A - SLURP1(NM_020427.3):c.286C>T (p.R96*) - SLURP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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