RGD:13468628 Rat Genome Database

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Variant: RGD:13468628 -  Homo sapiens

RGD ID: 13468628
RS ID: rs753872604
ClinVar ID: CV455323
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  TH2-LCR  TH2LCRR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 131,973,919
GRCh38 5 132,638,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_132126.1:n.213C>T
NR_132125.1:n.228C>T
NR_132124.1:n.84C>T
NM_005732.3:c.3618+4G>A
More... 		06/01/2017 intron variant uncertain significance 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:TH2LCRR
Accession:NR_132126
Location:EXON;NON-CODING

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

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

Gene Symbol:RAD50
Accession:NM_005732
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000544629 CLINVAR
dbSNP (RS) rs753872604 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene 106128901 CLINVAR
  RAD50 CLINVAR
  TH2LCRR CLINVAR
OMIM 604040 CLINVAR
SNOMED CT 699346009 CLINVAR