RGD:11089193 Rat Genome Database

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Variant: RGD:11089193 -  Homo sapiens

RGD ID: 11089193
RS ID: rs876658663
ClinVar ID: CV233395
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 131,944,971
GRCh38 5 132,609,279
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000005.10:g.132609279G>A
NC_000005.9:g.131944971G>A
NM_005732.4:c.2923-4G>A
NG_021151.1:g.57356G>A
More... 		09/19/2019 intron variant uncertain significance adult 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 RCV000214501 CLINVAR
dbSNP (RS) rs876658663 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene RAD50 CLINVAR
OMIM 604040 CLINVAR
SNOMED CT 699346009 CLINVAR