RGD:13614838 Rat Genome Database

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Variant: RGD:13614838 -  Homo sapiens

RGD ID: 13614838
RS ID: rs1554098728
ClinVar ID: CV520696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 131,931,510
GRCh38 5 132,595,818
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.132595818T>C
NC_000005.9:g.131931510T>C
NM_005732.4:c.2207+8T>C
NG_021151.2:g.43842T>C
More... 		10/14/2017 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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000632250 CLINVAR
dbSNP (RS) rs1554098728 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene RAD50 CLINVAR
OMIM 604040 CLINVAR
SNOMED CT 699346009 CLINVAR