Genomic variant #0000044628

Individual ID 00022364
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23647109_23647110del
DNA change (hg38) g.23635788_23635789del
Published as -
ISCN -
DB-ID PALB2_000005 See all 9 reported entries
Variant remarks -
Reference PubMed: Reid 2007
ClinVar ID ClinVar-126768
dbSNP ID rs180177092
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Arleen D. Auerbach




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 +/+ 4 c.757_758del pathogenic r.(?) p.(Leu253Ilefs*3) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022362 DNA SEQ - - PALB2 2 Arleen D. Auerbach