Full data view for gene SMARCA2

Information The variants shown are described using the NM_003070.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/? 15 c.2267C>T r.(?) p.(Thr756Ile) Unknown - pathogenic g.2081914C>T g.2081914C>T - - SMARCA2_000012 - PubMed: Van Houdt et al 2012 - - Unknown - - - 0 - DNA SEQ - - NCBRS - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. 15 c.2267C>T r.(?) p.(Thr756Ile) Parent #1 - VUS g.2081914C>T g.2081914C>T p(.T756I), not specified - SMARCA2_000012 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
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