RGD:15200835 Rat Genome Database

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Variant: RGD:15200835 -  Homo sapiens

RGD ID: 15200835
RS ID: rs1172897703
ClinVar ID: CV775455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUFU  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 104,309,871
GRCh38 10 102,550,114
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001178133.2:c.454+8G>A
NM_016169.4:c.454+8G>A
NG_021338.1:g.51153G>A
NC_000010.11:g.102550114G>A
More... 		08/06/2018 intron variant likely benign 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_011539864
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425338
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425336
Location:INTRON

Gene Symbol:SUFU
Accession:NM_016169
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425335
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425337
Location:INTRON

Gene Symbol:SUFU
Accession:NM_001178133
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539860
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539861
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539863
Location:INTRON

Gene Symbol:SUFU
Accession:XM_047425339
Location:INTRON

Gene Symbol:SUFU
Accession:XM_011539858
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000935492 CLINVAR
dbSNP (RS) rs1172897703 CLINVAR
MedGen C0004779 CLINVAR
NCBI Gene SUFU CLINVAR
OMIM 155255 CLINVAR
  607035 CLINVAR
SNOMED CT 69408002 CLINVAR