RGD:25316826 Rat Genome Database

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Variant: RGD:25316826 -  Homo sapiens

RGD ID: 25316826
RS ID: rs200066108
ClinVar ID: CV804854
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 57,478,676
GRCh38 20 58,903,621
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001309840.2:c.135+36C>T
NM_001309861.2:c.135+36C>T
NC_000020.10:g.57478676C>T
NG_016194.2:g.68882C>T
More... 		10/11/2019 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GNAS
Accession:NM_001077490
Location:3UTRS;INTRON

Gene Symbol:GNAS
Accession:NM_016592
Location:3UTRS;INTRON

Gene Symbol:GNAS
Accession:XM_047440116
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027820
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440113
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440123
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440124
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001309840
Location:INTRON

Gene Symbol:GNAS
Accession:NM_000516
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001309861
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001309842
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027812
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027819
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440114
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001077488
Location:INTRON

Gene Symbol:GNAS
Accession:XM_024451875
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440117
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001077489
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027818
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440122
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440115
Location:INTRON

Gene Symbol:GNAS
Accession:NM_080426
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001309883
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440125
Location:INTRON

Gene Symbol:GNAS
Accession:XM_024451873
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440121
Location:INTRON

Gene Symbol:GNAS
Accession:NM_080425
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440120
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440118
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001410912
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027815
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027813
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027817
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001410913
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440119
Location:INTRON

Gene Symbol:GNAS
Accession:NR_132272
Location:INTRON;NON-CODING

Gene Symbol:GNAS
Accession:NR_132273
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001007583 CLINVAR
dbSNP (RS) rs200066108 CLINVAR
MedGen C0033806 CLINVAR
NCBI Gene GNAS CLINVAR
OMIM 139320 CLINVAR
SNOMED CT 58976002 CLINVAR