Genomic variant #0000022801

Individual ID 00017287
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23619279G>A
Reference -
DB-ID PALB2_000024 See all 6 reported entries
dbSNP ID rs587776527
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 0.00035
Allele Count 2
Allele Number 5768
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PALB2 NM_024675.3 +/+ - c.3256C>T r.(?) p.(Arg1086*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000957 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou