Variant #0000081485 (NC_000016.9:g.23647179C>A, PALB2(NM_024675.3):c.688G>T)

Individual ID 00052097
Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23647179C>A
DNA change (hg38) g.23635858C>A
Published as -
ISCN -
DB-ID PALB2_010321 See all 2 reported entries
Variant remarks -
Reference PubMed: Couch 2015
ClinVar ID -
dbSNP ID rs730881905
Origin Unknown
Segregation -
Frequency -
Re-site LpnPI-
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Marc Tischkowitz
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 +?/+ 4 c.688G>T r.(?) p.(Glu230*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052045 DNA SEQ - - PALB2 1 Marc Tischkowitz