Genomic variant #0000044639

Individual ID 00022366
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.23619181T>C
DNA change (hg38) g.23607860T>C
Published as -
ISCN -
DB-ID PALB2_000010 See all 4 reported entries
Variant remarks -
Reference PubMed: Reid 2007
ClinVar ID ClinVar-126737
dbSNP ID rs180177136
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 +/? 12i c.3350+4A>G pathogenic r.3350_3350+1insgcag p.Phe1118fs* FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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