Genomic variant #0000079775

Individual ID 00050784
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.23634293C>T
DNA change (hg38) g.23622972C>T
Published as -
ISCN -
DB-ID PALB2_010135 See all 34 reported entries
Variant remarks -
Reference PubMed: Blanco2013
ClinVar ID ClinVar-126699
dbSNP ID rs45551636
Origin Germline
Segregation -
Frequency -
Re-site HpyAV+, BccI-, BseRI-
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01785 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 -?/- 9 c.2993G>A r.(?) p.(Gly998Glu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050729 DNA ? - - PALB2 1 Marc Tischkowitz