Genomic variant #0000079711

Individual ID 00050720
Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.23646295T>C
DNA change (hg38) g.23634974T>C
Published as Ser524Ser
ISCN -
DB-ID PALB2_010076 See all 24 reported entries
Variant remarks -
Reference PubMed: Bogdanova2011
ClinVar ID ClinVar-126608
dbSNP ID rs45472400
Origin Germline
Segregation -
Frequency -
Re-site AlwI+, BslI+
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00339 View details
Owner Marc Tischkowitz




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 -/- 4 c.1572A>G benign r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050665 DNA SEQ - - PALB2 1 Marc Tischkowitz