Genomic variant #0000040892

Individual ID 00021483
Chromosome 19
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.11138483G>A
Reference -
DB-ID SMARCA4_000001 See all 4 reported entries
dbSNP ID -
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA4 NM_001128844.1 +/+ - c.3239G>A r.(?) p.(Gly1080Asp)
SMARCA4 NM_001128845.1 +/+ - c.3239G>A r.(?) p.(Gly1080Asp)
SMARCA4 NM_001128846.1 +/+ - c.3239G>A r.(?) p.(Gly1080Asp)
SMARCA4 NM_001128847.1 +/+ - c.3239G>A r.(?) p.(Gly1080Asp)
SMARCA4 NM_001128848.1 +/+ - c.3239G>A r.(?) p.(Gly1080Asp)
SMARCA4 NM_001128849.1 +/+ - c.3239G>A r.(?) p.(Gly1080Asp)
SMARCA4 NM_003072.3 +/+ - c.3239G>A r.(?) p.(Gly1080Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007401 DNA SEQ 1 SMARCA4 1 Despoina Kalfakakou