RGD:126758705 Rat Genome Database

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Variant: RGD:126758705 -  Homo sapiens

RGD ID: 126758705
RS ID: rs1750619594
ClinVar ID: CV990609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 131,923,388
GRCh38 5 132,587,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_312t1:c.885+6T>C
NM_005732.4:c.885+6T>C
LRG_312:g.35720T>C
NG_021151.2:g.35720T>C
More...
08/25/2020 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 References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001308799 CLINVAR
dbSNP (RS) rs1750619594 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene RAD50 CLINVAR
OMIM 604040 CLINVAR
SNOMED CT 699346009 CLINVAR