rs182194007 Rat Genome Database

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Variant: rs182194007 -  Homo sapiens

RGD ID: 8591413
RS ID: rs182194007
ClinVar ID: CV132188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PALB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 23,635,433
GRCh38 16 23,624,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_308t1:c.2749-18C>T
LRG_308:g.22246C>T
NG_007406.1:g.22246C>T
NC_000016.10:g.23624112G>A
More... 		01/31/2024 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Breast and ovarian cancer; Breast cancer, familial; Cancer predisposition; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary breast and/or ovarian cancer syndrome; Hereditary breast cancer; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:PALB2
Accession:NM_001407299
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407312
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407305
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407300
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407309
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407308
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407304
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407313
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407307
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407310
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407297
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407306
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407311
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407314
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407298
Location:INTRON

Gene Symbol:PALB2
Accession:NM_024675
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407296
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407302
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407301
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22241545   PMID:25085752   PMID:25356972   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114555 CLINVAR
  RCV000127298 CLINVAR
  RCV000212817 CLINVAR
  RCV000679766 CLINVAR
  RCV003149784 CLINVAR
  RCV004764763 CLINVAR
dbSNP (RS) rs182194007 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C0677776 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN221562 CLINVAR
NCBI Gene PALB2 CLINVAR
OMIM 114480 CLINVAR
  610355 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR