RGD:13491329 Rat Genome Database

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Variant: RGD:13491329 -  Homo sapiens

RGD ID: 13491329
RS ID: rs1236278956
ClinVar ID: CV474138
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD50  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 131,915,553
GRCh38 5 132,579,861
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.132579861G>A
NC_000005.9:g.131915553G>A
NG_021151.2:g.27885G>A
LRG_312:g.27885G>A
More...
11/17/2021 splice acceptor variant pathogenic|likely pathogenic Breast and ovarian cancer; Cancer predisposition; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); 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:16385572   PMID:19409520   PMID:24894818   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000570029 CLINVAR
  RCV001783075 CLINVAR
  RCV002271531 CLINVAR
dbSNP (RS) rs1236278956 CLINVAR
MedGen C0027672 CLINVAR
  C0677776 CLINVAR
  C2751318 CLINVAR
NCBI Gene RAD50 CLINVAR
OMIM 604040 CLINVAR
  613078 CLINVAR
SNOMED CT 699346009 CLINVAR