Genomic variant #0000079816

Individual ID 00050825
Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification likely benign
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 25 reported entries
Variant remarks -
Reference PubMed: Bogdanova2011
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 -?/- 8 c.2794G>A r.(?) p.(Val932Met) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050770 DNA ? - - PALB2 1 Marc Tischkowitz