Genomic variant #0000079823

Individual ID 00050832
Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23635370C>T
DNA change (hg38) g.23624049C>T
Published as -
ISCN -
DB-ID PALB2_010125 See all 22 reported entries
Variant remarks -
Reference PubMed: Wong2011
ClinVar ID ClinVar-126682
dbSNP ID rs45624036
Origin Germline
Segregation -
Frequency -
Re-site CviAII+, FatI+, NlaIII+, BssSI-
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00431 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 -?/- 8 c.2794G>A likely benign r.(?) p.(Val932Met) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050777 DNA ? - - PALB2 1 Marc Tischkowitz