Full data view for gene BCS1L

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

7 entries on 1 page. Showing entries 1 - 7.
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AscendingDNA change (cDNA)     

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?/? 2i c.-50+155T>A - r.? p.? Unknown g.219525123T>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 - 0 - - - - - - - - - - - - - - - - - - -
+/+ 03 c.166C>T - r.166c>u p.Arg56* Unknown g.219525876C>T - - - BCS1L_000002 1 British patient (com-het) with GRACILE syndrome PubMed: Visapää et al. 2002 rs121908576 SUMMARY record ? 0/140 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.232A>G - r.232a>g p.Ser78Gly Unknown g.219525942A>G - - - BCS1L_000003 functional studies, variant causes functional defect in BCS1L protein; Finnish Major GRACILE mutation: 11 Finnish GRACILE families (hom) and 3 Finnish GRACILE patients (hom), also 1 British GRACILE patient (com-het) PubMed: Visapää et al. 2002, PubMed: Fellman et al. 2008 rs28937590 SUMMARY record - 1/494 FIN (het) - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.296C>T - r.(296c>u) p.(Pro99Leu) Both (homozygous) g.219526006C>T - - - BCS1L_000007 1 patient (hom) with GRACILE syndrome PubMed: Kasapkara et al. 2014 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 3i c.320+1G>T - r.spl p.? Unknown g.219526031G>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 - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.431G>A - r.431g>a p.Arg144Gln Unknown g.219526239G>A - - - BCS1L_000005 1 British patient (com-het) with GRACILE syndrome PubMed: Visapää et al. 2002 - SUMMARY record ? 0/140 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 07 c.980T>C - r.980u>c p.Val327Ala Unknown g.219527696T>C - - - BCS1L_000006 1 British patient (com-het) with GRACILE syndrome PubMed: Visapää et al. 2002 - SUMMARY record ? 0/140 CON - - - - - - - - - - - - - - - - - - - - -
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