RGD:12901711 Rat Genome Database

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Variant: RGD:12901711 -  Homo sapiens

RGD ID: 12901711
RS ID: rs1064794193
ClinVar ID: CV407963
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130004273  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 89,623,308
GRCh38 10 87,863,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
NG_033079.1:g.4887C>T
LRG_311:g.5114G>A
NG_007466.2:g.5114G>A
NC_000010.11:g.87863551G>A
More...
10/09/2017 uncertain significance AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000485388 CLINVAR
  RCV001018986 CLINVAR
dbSNP (RS) rs1064794193 CLINVAR
MedGen C0027672 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC130004273 CLINVAR
  PTEN CLINVAR
OMIM 601728 CLINVAR
SNOMED CT 699346009 CLINVAR