Variant #0000394911 (NC_000009.11:g.2115831G>C, SMARCA2(NM_003070.3):c.3466G>C)

Individual ID 00174154
Chromosome 9
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2115831G>C
DNA change (hg38) g.2115831G>C
Published as p.(Ala1156Pro), not specified
ISCN -
DB-ID SMARCA2_000106
Variant remarks -
Reference PubMed: Sousa SB 2014
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 ?/. 25 c.3466G>C r.(?) p.(Ala1156Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175044 DNA SEQ - - SMARCA2 1 Julia Lopez