RGD:12887177 Rat Genome Database

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Variant: RGD:12887177 -  Homo sapiens

RGD ID: 12887177
RS ID: rs765096225
ClinVar ID: CV394798
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  TH2-LCR  TH2LCRR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 131,976,506
GRCh38 5 132,640,814
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.132640814C>T
NC_000005.9:g.131976506C>T
NM_005732.4:c.3752+9C>T
NG_042308.1:g.11652C>T
More... 		01/16/2019 intron variant likely benign 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:RAD50
Accession:NM_005732
Location:INTRON

Gene Symbol:TH2LCRR
Accession:NR_132126
Location:INTRON;NON-CODING

Gene Symbol:TH2LCRR
Accession:NR_132125
Location:INTRON;NON-CODING

Gene Symbol:TH2LCRR
Accession:NR_132124
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000468602 CLINVAR
dbSNP (RS) rs765096225 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene 106128901 CLINVAR
  RAD50 CLINVAR
  TH2LCRR CLINVAR
OMIM 604040 CLINVAR
SNOMED CT 699346009 CLINVAR