All transcript variants in gene SMARCB1

Information The variants shown are described using the NM_003073.3 transcript reference sequence.

407 entries on 5 pages. Showing entries 1 - 100.
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Effect     

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     
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - G?A mutation in the donor splice site, truncating mutation, not specified - LARGE_000000 Refseq: not provided PubMed: Taylor MD 2000 - - Germline - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Kordes U 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - single bp substitution, truncating, not specified - LARGE_000000 Refseq reported: Y17118–Y17126 PubMed: Biegel JA 1999 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Smith MJ 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Smith MJ 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Duplication of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Kordes U 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Beddow RA 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Lafay-Cousin L 2009 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Kerl K 2016 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - G?Amutationinthedonorsplicesite - LARGE_000000 Refseq reported: AB017523 PubMed: Taylor MD 2000 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Le Loarer 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.? p.? g.? - hg18 (arr 22q11.21q11.23 (20,128,774-22,960,317) × 1) - LARGE_000000 - PubMed: Chakrapani AL 2012 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Forest F 2012 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported:hg18 PubMed: Toth G 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported:hg18 PubMed: Bosse KR 2014 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Kordes U 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - G?A mutation in the donor splice site, truncating, not specified - LARGE_000000 Refseq: not provided PubMed: Taylor MD 2000 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Gigante L 2016 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - codon 91delT, not specified - LARGE_000000 Refseq: not provided PubMed: Savla J 2000 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported: Y17118-Y17126 PubMed: Kordes 2010 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - codon 40, not specified - LARGE_000000 Refseq reported: Y17118-Y17126 PubMed: Fujita M 2005 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported: Y17118-Y17126 PubMed: Sévenet N 1999 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Seeringer A 2014 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq: not provided PubMed: Gigante L 2016 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - c.789, Gln-->Stop - not specified - LARGE_000000 Refseq reported: AP000349-350 PubMed: Biegel JA 2002 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported: Y17118-Y17126 PubMed: Kordes 2010 - - Unknown - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 - PubMed: Wieser R 2005 - - De novo - - - 0 - Julia Lopez
?/. - c.? - r.(?) p.? g.? - Deletion of SMARCB1, not specified - LARGE_000000 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - 0 - Julia Lopez
+/. _1_9_ c.(?_-2108969)_(*1_?)del - r.0 p.0 g.(?_22020388)_(24176368_?)del - del PPIL2_SMARCB1 - SMARCB1_000035 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-2108969)_(*1_?)del - r.0 p.0 g.(?_22020388)_(24176368_?)del - del PPIL2_SMARCB1 - SMARCB1_000035 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-691475)_(*1_?)del - r.0 p.0 g.(?_23437882)_(24176368_?)del - del GNAZ_SMARCB1 - SMARCB1_000034 - - - - Germline - - - 0 - Till Holsten
?/. - c.-4839G>T VUS r.(?) p.(=) g.24124518G>T - MMP11(NM_005940.3):c.1181G>T (p.(Gly394Val)) - MMP11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-4683C>T likely benign r.(?) p.(=) g.24124674C>T - MMP11(NM_005940.3):c.1333+4C>T (p.?) - MMP11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 1 c.(?_-207)_(93+1_94-1)del - r.spl? p.? g.(2412915_24129150)_(24129450_24133942)del - Deletion of exon 1, not specified - SMARCB1_000068 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.(?_-207)_(93+1_94-1)del - r.spl? p.? g.(2412915_24129150)_(24129450_24133942)del - Deletion of exon 1, not specified - SMARCB1_000068 Refseq: not provided PubMed: Smith MJ 2014 - - Unknown - - - 0 - Julia Lopez
?/. 1_2i c.(?_-207)_(232+1_233-1)del - r.? p.? g.(2412915_24129150)_(24134082_24135745)del - Deletion of exon 1-2, not specified - SMARCB1_000069 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - 0 - Julia Lopez
?/. 1_5i c.(?_-207)_(628+1_629-1)del - r.? p.? g.(2412915_24129150)_(24145610_24158956)del - Deletion of exon 1–5, not specified - SMARCB1_000070 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - 0 - Julia Lopez
?/. 1_5i c.(?_-207)_(628+1_629-1)del - r.? p.? g.(2412915_24129150)_(24145610_24158956)del - Deletion of exon 1-5, not specified - SMARCB1_000070 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - 0 - Julia Lopez
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.? g.(21451072_21976803)_(24676569_24701666)del - Deletion of SMARCB1, (exon 1 to 9) - SMARCB1_000065 Deletion (Proximal:19,781,072-20,306,803 Distal:23,006,569-23,031,666) hg18 PubMed: Jackson EM 2007 - - Unknown - - - 0 - Julia Lopez
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.? g.(23152039_23262944)_(24726599_24819702)del - Deletion of SMARCB1, (exon 1 to 9) - SMARCB1_000065 Deletion (Proximal:21,482,039-21,592,944 Distal:23,056,599-23,149,702)3 PubMed: Jackson EM 2007 - - Unknown - - - 0 - Julia Lopez
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.? g.(23691018_23708363)_(24726599_24819702)del - Deletion of SMARCB1, (exon 1 to 9) - SMARCB1_000065 Deletion (Proximal:22,021,018-22,038,363 Distal:23,056,599-23,149,702) hg18 PubMed: Jackson EM 2007 - - Unknown - - - 0 - Julia Lopez
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.? g.(23850497_23924406)_(24879777_24904683)del - Deletion of SMARCB1, (exon 1 to 9) - SMARCB1_000065 Deletion (Proximal:22,180,497-22,254,406 Distal:23,209,777-23,234,683) hg18 PubMed: Jackson EM 2007 - - De novo - - - 0 - Julia Lopez
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.? g.(21451072_21976803)_(24676569_24701666)del - Deletion of SMARCB1, (exon 1 to 9) - SMARCB1_000065 Deletion (Proximal:19,781,072-20,306,803 Distal:23,006,569-23,031,666) hg18 PubMed: Jackson EM 2007 - - Unknown - - - 0 - Julia Lopez
?/. - c.-22G>C VUS r.(?) p.(=) g.24129335G>C - SMARCB1(NM_003073.3):c.-22G>C - SMARCB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. _1_5i c.(?_-1)_(628+1_629-1)del - r.0? p.0? g.(?_24129356)_(24145610_24158956)del - del Ex1-Ex5 - SMARCB1_000028 - - - - Germline - - - 0 - Till Holsten
?/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - delSMARCB1 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - delSMARCB1 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - delSMARCB1 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - delSMARCB1 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - deletion SMARCB1 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - del ex1-9 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - deletion SMARCB1 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - deletion SMARCB1 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - deletion SMARCB1 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - delSMARCB1 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(?_24129356)_(24176368_?)del - del ex1-9 - SMARCB1_000030 - - - - Germline - - - 0 - Till Holsten
?/. 1 c.20_43delinsT - r.(?) p.(Ser7Ilefs*56) g.24129376_24129399delinsT - Gonadal Mosaicism: c.20_43delinsT, not specified - SMARCB1_000071 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - 0 - Julia Lopez
+/. - c.30del pathogenic r.(?) p.(Phe10Leufs*6) g.24129386del - SMARCB1(NM_003073.3):c.30delC (p.F10Lfs*6) - SMARCB1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 1 c.30del - r.(?) p.(Phe10Leufs*6) g.24129386del - - - SMARCB1_000037 - PubMed: Rousseau G 2011 - - Unknown - - - 0 - Julia Lopez
+?/. - c.31G>A likely pathogenic r.(?) p.(Gly11Arg) g.24129387G>A - - - SMARCB1_000153 - PubMed: Han 2018 - - De novo - - - 0 - Joonhong Park
+/. - c.34C>T pathogenic r.(?) p.(Gln12*) g.24129390C>T - SMARCB1(NM_003073.3):c.34C>T (p.Q12*) - SMARCB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 1 c.34C>T - r.(?) p.(Gln12*) g.24129390C>T - - - SMARCB1_000003 Refseq reported: U04847.1 PubMed: Hulsebos TJ 2007 - - Germline - - - 0 - Julia Lopez
?/. 1 c.34C>T - r.(?) p.(Gln12*) g.24129390C>T - - - SMARCB1_000003 Refseq reported: U04847.1 PubMed: Hulsebos TJ 2007 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.34C>T - r.(?) p.(Gln12*) g.24129390C>T - - - SMARCB1_000003 Refseq: not provided PubMed: Smith MJ 2012 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.38delA - r.(?) p.(Lys13Serfs*3) g.24129394delA - - - SMARCB1_000072 Refseq: not provided PubMed: Smith MJ 2014 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.40C>T - r.(?) p.(Pro14Ser) g.24129396C>T - - - SMARCB1_000073 Refseq: not provided PubMed: Smith MJ 2014 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.41C>A - r.(?) p.(Pro14His) g.24129397C>A - - - SMARCB1_000074 Refseq reported:NC_000022.9 PubMed: Hadfield KD 2008 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.41C>A - r.(?) p.(Pro14His) g.24129397C>A - - - SMARCB1_000074 Refseq reported:NC_000022.9 PubMed: Hadfield KD 2008 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.41C>A - r.(?) p.(Pro14His) g.24129397C>A - - - SMARCB1_000074 Refseq reported:NC_000022.9 PubMed: Hadfield KD 2008 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.41C>A - r.(?) p.(Pro14His) g.24129397C>A - - - SMARCB1_000074 Refseq reported:NC_000022.9 PubMed: Hadfield KD 2008 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.41C>A - r.(?) p.(Pro14His) g.24129397C>A - - - SMARCB1_000074 Refseq reported: AB017523 PubMed: Boyd 2008 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.41C>A - r.(?) p.(Pro14His) g.24129397C>A - - - SMARCB1_000074 Refseq reported: AB017523 PubMed: Boyd 2008 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.41C>A - r.(?) p.(Pro14His) g.24129397C>A - - - SMARCB1_000074 Refseq: not provided PubMed: Smith MJ 2012 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.46A>T - r.(?) p.(Lys16*) g.24129402A>T - - - SMARCB1_000075 Refseq reported:NC_000022.9 PubMed: Hadfield KD 2008 - - Unknown - - - 0 - Julia Lopez
?/. - c.84C>G - r.(?) p.Ile28Met g.24129440C>G - - - SMARCB1_000152 - - - - Germline - - - 0 - Andreas Laner
?/. 1 c.86_91del - r.(?) p.(Gly29_Ser30del) g.24129442_24129447delGCTCCG - - - SMARCB1_000076 Refseq reported:NC_000022.9 PubMed: Hadfield KD 2008 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.86_91del - r.(?) p.(Gly29_Ser30del) g.24129442_24129447delGCTCCG - - - SMARCB1_000076 - PubMed: Hadfield KD 2008 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.86_91del - r.(?) p.(Gly29_Ser30del) g.24129442_24129447del - - - SMARCB1_000076 Refseq: not provided PubMed: Smith MJ 2014 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.92A>T - r.(?) p.(Glu31Val) g.24129448A>T - - - SMARCB1_000077 - PubMed: Bacci C 2010 - - Germline - - - 0 - Julia Lopez
?/. 1 c.92A>T - r.(?) p.(Glu31Val) g.24129448A>T - - - SMARCB1_000077 - PubMed: Bacci C 2010 - - Germline - - - 0 - Julia Lopez
?/. 1 c.92A>T - r.(?) p.(Glu31Val) g.24129448A>T - - - SMARCB1_000077 - PubMed: Bacci C 2010 - - Germline - - - 0 - Julia Lopez
?/. 1 c.92A>T - r.(?) p.(Glu31Val) g.24129448A>T - - - SMARCB1_000077 - PubMed: Bacci C 2010 - - Germline - - - 0 - Julia Lopez
?/. 1 c.92A>T - r.(?) p.(Glu31Val) g.24129448A>T - - - SMARCB1_000077 Refseq: not provided PubMed: Smith MJ 2012 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.92A>T - r.(?) p.(Glu31Val) g.24129448A>T - - - SMARCB1_000077 - PubMed: Rousseau G 2011 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.93G>C - r.(?) p.(Glu31Asp) g.24129449G>C - - - SMARCB1_000078 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - 0 - Julia Lopez
?/. 1 c.93G>C - r.(?) p.(Glu31Asp) g.24129449G>C - - - SMARCB1_000078 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - Julia Lopez
-/. - c.93+117_93+120dup benign r.(=) p.(=) g.24129566_24129569dup - SMARCB1(NM_003073.3):c.93+116_93+117insGCGC - DERL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.93+118_93+119insTC benign r.(=) p.(=) g.24129567_24129568insTC - SMARCB1(NM_003073.3):c.93+118_93+119insTC - DERL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.93+119_93+120del benign r.(=) p.(=) g.24129568_24129569del - SMARCB1(NM_003073.3):c.93+119_93+120delGC - SMARCB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1i c.93+559A>G - r.93_94ins93+483_93+554 p.Val32fs g.24130008A>G g.23787821A>G - - SMARCB1_000014 results in addition of 72 nucleotides in transcript between exon 1 and 2 and ultimately to a loss of function due to a premature termination codon; targeted sequencing parents revealed variant was de novo Author submited - - De novo - - - 0 - Julien Masliah-Planchon
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