Genomic variant #0000079873

Individual ID 00050882
Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23646857A>G
DNA change (hg38) g.23635536A>G
Published as -
ISCN -
DB-ID PALB2_010059 See all 29 reported entries
Variant remarks -
Reference PubMed: Garcia2009
ClinVar ID ClinVar-126582
dbSNP ID rs45494092
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01424 View details
Owner Marc Tischkowitz




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 -/- 4 c.1010T>C benign r.(?) p.(Leu337Ser) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050827 DNA ? - - PALB2 1 Marc Tischkowitz