RGD:127244273 Rat Genome Database

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Variant: RGD:127244273 -  Homo sapiens

RGD ID: 127244273
RS ID: rs864622681
ClinVar ID: CV1072215
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 131,923,791
GRCh38 5 132,588,099
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_312t1:c.1051+10A>T
NM_005732.4:c.1051+10A>T
LRG_312:g.36123A>T
NG_021151.2:g.36123A>T
More... 		04/09/2019 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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001416315 CLINVAR
dbSNP (RS) rs864622681 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene RAD50 CLINVAR
OMIM 604040 CLINVAR
SNOMED CT 699346009 CLINVAR