RGD:156277540 Rat Genome Database

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Variant: RGD:156277540 -  Homo sapiens

RGD ID: 156277540
ClinVar ID: CV2188441
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PALB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 23,652,424
GRCh38 16 23,641,103
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001407304.1:c.-1689G>A
NM_001407310.1:c.-1689G>A
NM_024675.4:c.48+7G>A
LRG_308:g.5255G>A
More... 		05/04/2022 intron variant uncertain significance Breast cancer, familial; Hereditary breast cancer
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:PALB2
Accession:NM_001407304
Location:5UTRS;EXON

Gene Symbol:PALB2
Accession:NM_001407310
Location:5UTRS;EXON

Gene Symbol:PALB2
Accession:NM_001407309
Location:5UTRS;INTRON

Gene Symbol:PALB2
Accession:NM_001407306
Location:5UTRS;INTRON

Gene Symbol:PALB2
Accession:NM_001407311
Location:5UTRS;INTRON

Gene Symbol:PALB2
Accession:NM_001407305
Location:5UTRS;INTRON

Gene Symbol:PALB2
Accession:NM_001407307
Location:5UTRS;INTRON

Gene Symbol:PALB2
Accession:NM_001407308
Location:5UTRS;INTRON

Gene Symbol:PALB2
Accession:NM_001407312
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:PALB2
Accession:NM_001407313
Location:5UTRS;INTRON

Gene Symbol:PALB2
Accession:NM_001407301
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407314
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407298
Location:INTRON

Gene Symbol:PALB2
Accession:NM_024675
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407300
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407299
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407296
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407297
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407302
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003044667 CLINVAR
MedGen C0346153 CLINVAR
NCBI Gene PALB2 CLINVAR
OMIM 114480 CLINVAR
  610355 CLINVAR
SNOMED CT 254843006 CLINVAR