Full data view for gene SMARCB1

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

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.143C>T r.(?) p.(Pro48Leu) Unknown - pathogenic g.24133992C>T g.23791805C>T SMARCB1(NM_003073.5):c.143C>T (p.P48L) - SMARCB1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq: not provided PubMed: Christiaans I 2011 - - Unknown - - - - - DNA SEQ - - meningioma Family 1 : II9 PubMed: Christiaans I 2011 - F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq: not provided PubMed: Christiaans I 2011 - - Germline - - - - - DNA SEQ - - meningioma Family 1 : III1 PubMed: Christiaans I 2011 - F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq: not provided PubMed: Christiaans I 2011 - - Germline - - - - - DNA SEQ - - meningioma Family 1 : III6 PubMed: Christiaans I 2011 - F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control IV3 PubMed: van den Munckhof P 2012 no evidence of disease at 39y F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control IV7 PubMed: van den Munckhof P 2012 no evidence of disease at 31y F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control IV8 PubMed: van den Munckhof P 2012 no evidence of disease at 24y F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: Christiaans I 2011 - - Unknown - - - - - DNA SEQ - - meningioma II6 PubMed: Christiaans I 2011 - M - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - meningioma, SWNTS III12 PubMed: van den Munckhof P 2012 - F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - meningioma, SWNTS III15 PubMed: van den Munckhof P 2012 - F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - meningioma, SWNTS III16 PubMed: van den Munckhof P 2012 - M - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - meningioma, SWNTS III17 PubMed: van den Munckhof P 2012 - F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - meningioma, SWNTS IV2 PubMed: van den Munckhof P 2012 - M - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - meningioma, SWNTS IV4 PubMed: van den Munckhof P 2012 - M - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq: not provided PubMed: Christiaans I 2011 - - Germline - - - - - DNA SEQ - - meningioma III7 PubMed: Christiaans I 2011 - F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Unknown - - - - - DNA SEQ - - meningioma, SWNTS II3 PubMed: van den Munckhof P 2012 - M - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - meningioma, SWNTS III1 PubMed: van den Munckhof P 2012 - M - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - meningioma, SWNTS III7 PubMed: van den Munckhof P 2012 - F - - - - - - - 1 Julia Lopez
?/. 2 c.143C>T r.(?) p.(Pro48Leu) Parent #1 - VUS g.24133992C>T g.23791805C>T - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - - - DNA SEQ - - meningioma, SWNTS III10 PubMed: van den Munckhof P 2012 - M - - - - - - - 1 Julia Lopez
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