rs2142352787 Rat Genome Database

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Variant: rs2142352787 -  Homo sapiens

RGD ID: 127269712
RS ID: rs2142352787
ClinVar ID: CV1103698
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PALB2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 23,637,550
GRCh38 16 23,626,229
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.2748+7G>T
LRG_308:g.20129G>T
NG_007406.1:g.20129G>T
NC_000016.10:g.23626229C>A
More... 		10/19/2023 intron variant likely benign Breast cancer, familial; Hereditary breast cancer
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PALB2
Accession:NM_001407297
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407307
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407309
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407314
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407296
Location:INTRON

Gene Symbol:PALB2
Accession:NM_024675
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407300
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407302
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407301
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407305
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407313
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407298
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407310
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407308
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407312
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407311
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407306
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407299
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407304
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001430348 CLINVAR
dbSNP (RS) rs2142352787 CLINVAR
MedGen C0346153 CLINVAR
NCBI Gene PALB2 CLINVAR
OMIM 114480 CLINVAR
  610355 CLINVAR
SNOMED CT 254843006 CLINVAR