rs1060499814 Rat Genome Database

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Variant: rs1060499814 -  Homo sapiens

RGD ID: 12859018
RS ID: rs1060499814
ClinVar ID: CV389282
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PALB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 23,649,390
GRCh38 16 23,638,069
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024675.4:c.108+1G>A
LRG_308t1:c.108+1G>A
LRG_308:g.8289G>A
NG_007406.1:g.8289G>A
More... 		10/07/2022 intron variant|splice donor variant pathogenic|likely pathogenic Breast cancer, familial; Breast cancer, susceptibility to; Cancer predisposition; Hereditary breast cancer; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Pancreatic cancer 3; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PALB2
Accession:NM_001407306
Location:5UTRS;INTRON

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

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

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

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

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

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

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

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

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

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:PALB2
Accession:NM_001407314
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407302
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407299
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407296
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407300
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407301
Location:INTRON

Gene Symbol:PALB2
Accession:NM_024675
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407297
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407298
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28319063   PMID:28492532   PMID:30337689   PMID:31586400   PMID:31636395   PMID:31757951   PMID:33169439   PMID:33471991   PMID:33964450   PMID:34846068  
PMID:35264596  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000454354 CLINVAR
  RCV000466548 CLINVAR
  RCV000484652 CLINVAR
  RCV001258109 CLINVAR
dbSNP (RS) rs1060499814 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C3150547 CLINVAR
  C3661900 CLINVAR
NCBI Gene PALB2 CLINVAR
OMIM 114480 CLINVAR
  610355 CLINVAR
  613348 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR