Variant #0000018732 (NC_000019.9:g.11107133T>C, SMARCA4(NM_001128849.1):c.1762-37T>C)

Individual ID 00001535
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.11107133T>C
DNA change (hg38) g.10996457T>C
Published as -
ISCN -
DB-ID SMARCA4_000013 See all 20 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.34017 View details
Owner Gijs Santen
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA4 NM_001128844.1 ./. - c.1762-37T>C r.(=) p.(=)
SMARCA4 NM_001128849.1 ?/? - c.1762-37T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001306 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 15 Gijs Santen