RGD:11658710 Rat Genome Database

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Variant: RGD:11658710 -  Homo sapiens

RGD ID: 11658710
RS ID: rs2298277
ClinVar ID: CV313983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUFU  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 104,390,030
GRCh38 10 102,630,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_521t1:c.*118C>T
LRG_521:g.131312C>T
NG_021338.1:g.131312C>T
NC_000010.11:g.102630273C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign 1-9 / 1 000 000 MEDULLOBLASTOMA PREDISPOSITION SYNDROME; Medulloblastoma, somatic
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:3UTRS;EXON

Gene Symbol:SUFU
Accession:XM_047425335
Location:3UTRS;EXON

Gene Symbol:SUFU
Accession:XM_047425339
Location:3UTRS;EXON

Gene Symbol:SUFU
Accession:XM_047425337
Location:3UTRS;EXON

Gene Symbol:SUFU
Accession:XM_047425338
Location:3UTRS;EXON

Gene Symbol:SUFU
Accession:XM_011539860
Location:3UTRS;EXON

Gene Symbol:SUFU
Accession:XM_011539858
Location:3UTRS;EXON

Gene Symbol:SUFU
Accession:XM_047425336
Location:3UTRS;EXON

Gene Symbol:SUFU
Accession:XM_011539861
Location:3UTRS;EXON

Gene Symbol:SUFU
Accession:NM_016169
Location:3UTRS;EXON

Gene Symbol:SUFU
Accession:XM_011539864
Location:INTRON

Gene Symbol:SUFU
Accession:NM_001178133
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000351120 CLINVAR
dbSNP (RS) rs2298277 CLINVAR
MedGen C0025149 CLINVAR
NCBI Gene SUFU CLINVAR
OMIM 155255 CLINVAR
  607035 CLINVAR