Genomic variant #0000018757

Individual ID 00001513
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.11129600C>T
DNA change (hg38) g.11018924C>T
Published as -
ISCN -
DB-ID SMARCA4_000032 See all 11 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.08704 View details
Owner Gijs Santen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SMARCA4 NM_001128844.1 ./. - c.2439-33C>T - r.(=) p.(=)
SMARCA4 NM_001128849.1 ?/? - c.2439-33C>T - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001284 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 8 Gijs Santen