Genomic variant #0000044630

Individual ID 00022366
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.23641081_23641082insAG
DNA change (hg38) g.23629760_23629761insAG
Published as -
ISCN -
DB-ID PALB2_000009 See all 4 reported entries
Variant remarks -
Reference PubMed: Reid 2007
ClinVar ID ClinVar-126651
dbSNP ID rs180177113
Origin Germline
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 +/+ 5 c.2393_2394insCT pathogenic r.(?) p.(Thr799Leufs*53) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022364 DNA SEQ - - PALB2 2 Arleen D. Auerbach