Genomic variant #0000000188

Individual ID 00015629
Chromosome 16
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.23635372A>C
Reference -
DB-ID PALB2_000003 See all 9 reported entries
dbSNP ID rs773831304
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 0.00104
Allele Count 6
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.2792T>G r.(?) p.(Leu931Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000004 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou