RGD:405019909 Rat Genome Database

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Variant: RGD:405019909 -  Homo sapiens

RGD ID: 405019909
ClinVar ID: CV2976763
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PALB2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 23,632,808
GRCh38 16 23,621,487
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001407312.1:c.1209-10_1209-9insA
NM_001407313.1:c.1209-10_1209-9insA
NM_001407307.1:c.1950-10_1950-9insA
NM_001407304.1:c.2112-10_2112-9insA
More... 		11/23/2022 intron variant benign Breast cancer, familial; Hereditary breast cancer
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PALB2
Accession:NM_001407306
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407314
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407310
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407304
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407312
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407296
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407298
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407301
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407309
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407311
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407300
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407305
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407302
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407307
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407313
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407299
Location:INTRON

Gene Symbol:PALB2
Accession:NM_024675
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407308
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407297
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003607907 CLINVAR
MedGen C0346153 CLINVAR
NCBI Gene PALB2 CLINVAR
OMIM 114480 CLINVAR
  610355 CLINVAR
SNOMED CT 254843006 CLINVAR