Variant #0000076932 (NC_000009.11:g.2081914C>T, SMARCA2(NM_003070.3):c.2267C>T)

Individual ID 00047987
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2081914C>T
DNA change (hg38) g.2081914C>T
Published as -
ISCN -
DB-ID SMARCA2_000012 See all 2 reported entries
Variant remarks -
Reference PubMed: Van Houdt et al 2012
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner SIB - Livia Famiglietti
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 +/? 15 c.2267C>T r.(?) p.(Thr756Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048113 DNA SEQ - - SMARCA2 1 SIB - Livia Famiglietti