Genomic variant #0000031047

Individual ID 00021567
Chromosome 22
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.24143308C>T
Reference -
DB-ID SMARCB1_000005 See all 8 reported entries
dbSNP ID rs62642539
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 0.00139
Allele Count 8
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCB1 NM_001007468.1 ?/? - c.473+40C>T r.(=) p.(=)
SMARCB1 NM_003073.3 ?/? - c.500+40C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001748 DNA SEQ-NG-I 1 - 20 Despoina Kalfakakou