chr16:23629271:T> Detail (hg38) (PALB2)

Information

Genome

Assembly Position
hg19 chr16:23,640,592-23,640,592 
hg38 chr16:23,629,271-23,629,271

HGVS

Type Transcript Protein
RefSeq NM_024675.3:c.2519delA NP_078951.2:p.Thr841GlnfsTer10
Ensemble ENST00000261584.9:c.2519delA ENST00000261584.9:p.Thr841GlnfsTer10
ENST00000561514.3:c.2525delA ENST00000561514.3:p.Thr843GlnfsTer10
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 610355 OMIM
HGNC 26144 HGNC
Ensembl ENSG00000083093 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-05-13 no assertion criteria provided not provided germline Detail
Pathogenic 2024-01-22 criteria provided, single submitter Familial cancer of breast germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 FANCONI ANEMIA, COMPLEMENTATION GROUP N NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_024675.4(PALB2):c.2521del (p.Thr841fs) AND not provided ClinVar Detail
NM_024675.4(PALB2):c.2521del (p.Thr841fs) AND Familial cancer of breast ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs180177116 dbSNP
Genome
hg38
Position
chr16:23,629,271-23,629,271
Variant Type
snv
Reference Allele
T
Alternative Allele
-
Genome browser