RGD:12884643 Rat Genome Database

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Variant: RGD:12884643 -  Homo sapiens

RGD ID: 12884643
RS ID: rs1060504148
ClinVar ID: CV397525
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUFU  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 104,268,916
GRCh38 10 102,509,159
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_521t1:c.183-10T>C
LRG_521:g.10198T>C
NG_021338.1:g.10198T>C
NC_000010.11:g.102509159T>C
More... 		09/12/2019 intron variant likely benign adolescent 1-9 / 100 000 Basal cell nevus syndrome; Fifth Phacomatosis; Gorlin-Goltz Syndrome; Medulloblastoma; MEDULLOBLASTOMA PREDISPOSITION SYNDROME; Medulloblastoma, somatic; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
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_047425339
Location:5UTRS;INTRON

Gene Symbol:SUFU
Accession:NM_001178133
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425336
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539861
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539863
Location:INTRON

Gene Symbol:SUFU
Accession:NM_016169
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539858
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539860
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425335
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425337
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425338
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539864
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000463824 CLINVAR
dbSNP (RS) rs1060504148 CLINVAR
MedGen C0004779 CLINVAR
NCBI Gene SUFU CLINVAR
OMIM 155255 CLINVAR
  607035 CLINVAR
SNOMED CT 69408002 CLINVAR