Genomic variant #0000031519

Individual ID 00017794
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.24135814G>A
Reference -
DB-ID SMARCB1_000021
dbSNP ID rs774488493
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 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCB1 NM_001007468.1 ?/? - c.274G>A r.(?) p.(Asp92Asn)
SMARCB1 NM_003073.3 ?/? - c.301G>A r.(?) p.(Asp101Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001791 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou