RGD:11550407 Rat Genome Database

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Variant: RGD:11550407 -  Homo sapiens

RGD ID: 11550407
RS ID: rs12414407
ClinVar ID: CV253670
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUFU  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 104,387,019
GRCh38 10 102,627,262
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_521t1:c.1365+19T>C
LRG_521:g.128301T>C
NG_021338.1:g.128301T>C
NC_000010.11:g.102627262T>C
More... 		05/26/2016 intron variant benign AllHighlyPenetrant; Basal cell nevus syndrome; Fifth Phacomatosis; Gorlin-Goltz Syndrome; Medulloblastoma; MEDULLOBLASTOMA PREDISPOSITION SYNDROME; Medulloblastoma, somatic; Meningioma, familial, susceptibility to; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SUFU
Accession:XM_011539863
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539861
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539858
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539864
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425335
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425336
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425339
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425338
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425337
Location:INTRON

Gene Symbol:SUFU
Accession:NM_016169
Location:INTRON

Gene Symbol:SUFU
Accession:NM_001178133
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539860
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251718 CLINVAR
  RCV000586015 CLINVAR
  RCV001815265 CLINVAR
  RCV001815266 CLINVAR
  RCV002055052 CLINVAR
  RCV003316435 CLINVAR
dbSNP (RS) rs12414407 CLINVAR
MedGen C0004779 CLINVAR
  C3551915 CLINVAR
  C3661900 CLINVAR
  C4540342 CLINVAR
  CN169374 CLINVAR
NCBI Gene SUFU CLINVAR
OMIM 155255 CLINVAR
  607035 CLINVAR
  607174 CLINVAR
  617757 CLINVAR
SNOMED CT 69408002 CLINVAR