Genomic variant #0000044634

Individual ID 00022370
Chromosome 16
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(23637719_23640524)_(23649451_23652430)del
DNA change (hg38) -
Published as g.23649450_23640525del
ISCN -
DB-ID PALB2_000001 See all 3 reported entries
Variant remarks inherited from paternal allele (MLPA of EUFA1341 and father suggest deletion 1 copy exons 2-6)
Reference PubMed: Xia 2007
ClinVar ID -
dbSNP ID -
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 +/+ 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del pathogenic r.spl? p.? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022368 DNA SEQ;MLPA - - PALB2 2 Arleen D. Auerbach