Genomic variant #0000037422

Individual ID 00019562
Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23641218G>A
Reference [Vagena et al. 2019]
DB-ID PALB2_000012 See all 26 reported entries
dbSNP ID rs180177110
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder Yes
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00156
Allele Count 9
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.2257C>T r.(?) p.(Arg753*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005262 DNA SEQ 0 BRIP1, PALB2 1 Despoina Kalfakakou