RGD:127256103 Rat Genome Database

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Variant: RGD:127256103 -  Homo sapiens

RGD ID: 127256103
RS ID: rs2149840720
ClinVar ID: CV1055462
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 131,923,782
GRCh38 5 132,588,090
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+1G>A
NM_005732.4:c.1051+1G>A
LRG_312:g.36114G>A
NG_021151.2:g.36114G>A
More... 		03/19/2020 splice donor variant likely pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY; NBS-LIKE DISORDER; Neoplastic Syndromes, Hereditary; RAD50 DEFICIENCY; 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:16199547   PMID:16385572   PMID:19409520   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001379503 CLINVAR
  RCV003469640 CLINVAR
dbSNP (RS) rs2149840720 CLINVAR
MedGen C0027672 CLINVAR
  C2751318 CLINVAR
NCBI Gene RAD50 CLINVAR
OMIM 604040 CLINVAR
  613078 CLINVAR
SNOMED CT 699346009 CLINVAR