Genomic variant #0000018689

Individual ID 00001558
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.11136143C>T
DNA change (hg38) g.11025467C>T
Published as -
ISCN -
DB-ID SMARCA4_000033 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gijs Santen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SMARCA4 NM_001128844.1 ./. - c.3127C>T - r.(?) p.(Arg1043Trp)
SMARCA4 NM_001128849.1 ?/? - c.3127C>T - r.(?) p.(Arg1043Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001329 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 7 Gijs Santen