Full data view for gene SMARCB1

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

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Template     

Technique     

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Disease     

ID_report     

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Panel size     

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+/. 4 c.472C>T - r.(?) p.(Arg158*) Unknown g.24143240C>T g.23801053C>T - - SMARCB1_000015 - - - - Germline - - - 0 - DNA SEQ - - RTPS-1 - - - - - Germany - - 0 - - 1 Till Holsten
+/. - c.472C>T pathogenic r.(?) p.(Arg158*) Unknown g.24143240C>T - SMARCB1(NM_003073.3):c.472C>T (p.R158*) - SMARCB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - DNA SEQ - - RTPS-1 F5.1 Family 5 PubMed: Bourdeaut F 2011 - M - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - DNA SEQ - - RTPS-1 F5.2 Family 5 PubMed: Bourdeaut F 2011 - F - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - 0 - DNA SEQ - - RTPS-1 Family 8 : III1 PubMed: Eaton KW 2011 - F - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Paternal (confirmed) g.24143240C>T - - - SMARCB1_000015 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Germline - - - 0 - DNA SEQ - - RTPS-1 07-367 PubMed: Eaton KW 2011 - F - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq reported:hg18 PubMed: Eaton KW 2011 - - De novo - - - 0 - DNA SEQ - - RTPS-1 08-187 PubMed: Eaton KW 2011 - M - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 - PubMed: Sévenet N 1999 - - Unknown - - - 0 - DNA SEQ - - ? - PubMed: Sévenet N 1999 - - - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq reported: Y17118-Y17126 PubMed: Lee HY 2002 - - De novo - - - 0 - DNA SEQ - - RTPS-1 - PubMed: Lee HY 2002 - F - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq: not provided PubMed: Bourdeaut F 2011 - - Unknown - - - 0 - DNA SEQ - - ? 7 PubMed: Bourdeaut F 2011 - - - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq: not provided PubMed: Lee HY 2002 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Lee HY 2002 - - - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq reported: AP000349-350 PubMed: Biegel JA 1999 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Biegel JA 1999 - - - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - 0 - DNA SEQ - - SWNTS I2 PubMed: Eaton KW 2011 - - - - - - 0 - - 1 Julia Lopez
?/. 4 c.472C>T - r.(?) p.(Arg158*) Parent #1 g.24143240C>T - - - SMARCB1_000015 Refseq reported:hg18 PubMed: Eaton KW 2011 - - Unknown - - - 0 - DNA SEQ - - SWNTS II1 PubMed: Eaton KW 2011 - M - - - - 0 - - 1 Julia Lopez
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