Genomic variant #0000037153

Individual ID 00016187
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.23646724_23646727del
Reference -
DB-ID PALB2_000051 See all 4 reported entries
dbSNP ID rs1257545151
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.1140_1143del r.(?) p.(Ser380Argfs*43)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004964 DNA SEQ-NG 0 - 1 Despoina Kalfakakou