RGD:12883300 Rat Genome Database

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Variant: RGD:12883300 -  Homo sapiens

RGD ID: 12883300
RS ID: rs765764447
ClinVar ID: CV394784
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 131,940,701
GRCh38 5 132,605,009
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.132605009T>G
NC_000005.9:g.131940701T>G
NG_021151.2:g.53033T>G
NM_005732.4:c.2718+10T>G
More... 		02/04/2019 intron variant likely benign|uncertain significance AllHighlyPenetrant; 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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000461349 CLINVAR
  RCV000781781 CLINVAR
dbSNP (RS) rs765764447 CLINVAR
MedGen C0027672 CLINVAR
  CN169374 CLINVAR
NCBI Gene RAD50 CLINVAR
OMIM 604040 CLINVAR
SNOMED CT 699346009 CLINVAR