RGD:13510431 Rat Genome Database

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Variant: RGD:13510431 -  Homo sapiens

RGD ID: 13510431
RS ID: rs201368043
ClinVar ID: CV482931
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PALB2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 23,646,172
GRCh38 16 23,634,851
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_308t1:c.1684+11A>G
LRG_308:g.11507A>G
NG_007406.1:g.11507A>G
NC_000016.10:g.23634851T>C
More... 		11/04/2020 intron variant likely benign|uncertain significance Breast cancer, familial; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PALB2
Accession:NM_001407313
Location:5UTRS;INTRON

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

Gene Symbol:PALB2
Accession:NM_024675
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407308
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407306
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407314
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

Gene Symbol:PALB2
Accession:NM_001407298
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407300
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407299
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407301
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407307
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407309
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407311
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407305
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407310
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407304
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000580824 CLINVAR
  RCV001121720 CLINVAR
  RCV001860051 CLINVAR
dbSNP (RS) rs201368043 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C1835817 CLINVAR
NCBI Gene PALB2 CLINVAR
OMIM 114480 CLINVAR
  610355 CLINVAR
  610832 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR