Genomic variant #0000044643

Individual ID 00022370
Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23646214A>T
DNA change (hg38) g.23634893A>T
Published as -
ISCN -
DB-ID PALB2_000015 See all 8 reported entries
Variant remarks Francis Lach: 1802T>A does not correspond with change Y551*; AA551 confirmed to be Y; correct nomenclature probably c.1653T>A, theoretically results in observed protein change; c.1802 in exon 5; hemizygous?, from maternal allele
Reference PubMed: Xia 2007
ClinVar ID -
dbSNP ID rs118203997
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 +/+ 4 c.1653T>A pathogenic r.(?) p.(Tyr551*) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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