Variant #0000080210 (NC_000016.9:g.23625398C>G, PALB2(NM_024675.3):c.3128G>C)

Individual ID 00051218
Chromosome 16
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.23625398C>G
DNA change (hg38) g.23614077C>G
Published as -
ISCN -
DB-ID PALB2_010151 See all 6 reported entries
Variant remarks -
Reference PubMed: Kanchi 2014
ClinVar ID ClinVar-126716
dbSNP ID rs377713277
Origin Unknown
Segregation -
Frequency -
Re-site BsrI-, HincII-, Hpy166II-
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Marc Tischkowitz
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Marc Tischkowitz
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 -?/? 11 c.3128G>C r.(?) p.(Gly1043Ala) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051163 DNA SEQ - - PALB2 1 Marc Tischkowitz