RGD:25316979 Rat Genome Database

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Variant: RGD:25316979 -  Homo sapiens

RGD ID: 25316979
RS ID: rs1580987038
ClinVar ID: CV815332
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 131,915,004
GRCh38 5 132,579,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005732.4:c.366-5T>C
NG_021151.2:g.27336T>C
NC_000005.10:g.132579312T>C
NG_021151.1:g.27389T>C
More... 		05/01/2019 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:RAD50
Accession:NM_005732
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001020835 CLINVAR
dbSNP (RS) rs1580987038 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene RAD50 CLINVAR
OMIM 604040 CLINVAR
SNOMED CT 699346009 CLINVAR