Genomic variant #0000044644

Individual ID 00022371
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(23625413_23632682)_(23652678_?)del
DNA change (hg38) -
Published as c.-200-?_3113+?del
ISCN -
DB-ID PALB2_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Ameziane 2008
ClinVar ID ClinVar-126574
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan de Winter




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 +/+ _1_10i c.(?_-200)_(3113+1_3114-1)del pathogenic r.0? p.0? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022369 DNA MLPA;SEQ - - PALB2 2 Johan de Winter