Unique variants in gene BCS1L

Information The variants shown are described using the NM_004328.4 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/? 1 2i c.-50+155T>A - r.? p.? g.219525123T>A g.218660400T>A intron 1, -588T>A - BCS1L_000001 1 British patient (com-het) with GRACILE syndrome; pathogenicity not confirmed PubMed: Visapää et al. 2002 - - SUMMARY record ? 0/140 CON - - - Anne Polvi
+/+ 1 03 c.166C>T - r.166c>u p.Arg56* g.219525876C>T g.218661153C>T - - BCS1L_000002 1 British patient (com-het) with GRACILE syndrome PubMed: Visapää et al. 2002 - rs121908576 SUMMARY record ? 0/140 CON - - - Anne Polvi
+?/. 1 - c.205C>T likely pathogenic r.(?) p.(Arg69Cys) g.219525915C>T - BCS1L:c.205C>T (R69C) - BCS1L_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +/+ 2 03 c.232A>G pathogenic r.(?), r.232a>g p.(Ser78Gly), p.Ser78Gly g.219525942A>G g.218661219A>G BCS1L:c.232A>G (S78G) - BCS1L_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Visapää et al. 2002, PubMed: Fellman et al. 2008 - rs28937590 CLASSIFICATION record, SUMMARY record - 1/494 FIN (het) - - - VKGL-NL_Groningen, Anne Polvi
+?/. 1 - c.268C>T likely pathogenic r.(?) p.(Arg90Cys) g.219525978C>T - BCS1L:c.268C>T (R90C) - BCS1L_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/+? 1 1 c.296C>T - r.(296c>u) p.(Pro99Leu) g.219526006C>T g.218661283C>T - - BCS1L_000007 1 patient (hom) with GRACILE syndrome PubMed: Kasapkara et al. 2014 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 3i c.320+1G>T - r.spl p.? g.219526031G>T g.218661308G>T intron 2, donor 321G>T - BCS1L_000004 1 British patient (com-het) with GRACILE syndrome; splice site, polypeptide truncation PubMed: Visapää et al. 2002 - - SUMMARY record ? 0/140 CON - - - Anne Polvi
+?/+? 1 04 c.431G>A - r.431g>a p.Arg144Gln g.219526239G>A g.218661516G>A - - BCS1L_000005 1 British patient (com-het) with GRACILE syndrome PubMed: Visapää et al. 2002 - - SUMMARY record ? 0/140 CON - - - Anne Polvi
+/. 1 - c.478C>T pathogenic r.(?) p.(Gln160*) g.219526499C>T - BCS1L:c.478C>T (Q160*) - BCS1L_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.556C>T pathogenic r.(?) p.(Arg186*) g.219526577C>T - BCS1L:c.556C>T (R186*) - BCS1L_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.599G>A VUS r.(?) p.(Arg200Gln) g.219526620G>A - BCS1L:c.599G>A (R200Q) - BCS1L_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.796C>T VUS r.(?) p.(Leu266Phe) g.219527309C>T - ZNF142:NM_001079866.1:c.796C>T, NM_001105537.1:c.-3484G>A, … - BCS1L_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 07 c.980T>C - r.980u>c p.Val327Ala g.219527696T>C g.218662973T>C - - BCS1L_000006 1 British patient (com-het) with GRACILE syndrome PubMed: Visapää et al. 2002 - - SUMMARY record ? 0/140 CON - - - Anne Polvi
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