Genomic variant #0000079789

Individual ID 00050798
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.23634293C>T
DNA change (hg38) g.23622972C>T
Published as -
ISCN -
DB-ID PALB2_010135 See all 33 reported entries
Variant remarks -
Reference PubMed: Wong-Brown2013
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 -?/- 9 c.2993G>A likely benign r.(?) p.(Gly998Glu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050743 DNA ? - - PALB2 1 Marc Tischkowitz