View genomic variant #0000000039

Chromosome 16
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23641537_23641538dupTC
Reference -
DB-ID PALB2_000002
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Florian Bayersdorfer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PALB2 NM_024675.3 ./+ 5 c.1937_1938dupGA r.(?) p.(His647Aspfs*14)