RGD:11599941 Rat Genome Database

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Variant: RGD:11599941 -  Homo sapiens

RGD ID: 11599941
RS ID: rs117876027
ClinVar ID: CV308373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLIS3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 3,825,015
GRCh38 9 3,825,015
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
NC_000009.12:g.3825015T>C
NC_000009.11:g.3825015T>C
NM_001042413.2:c.*3257A>G
NG_011782.2:g.480021A>G
More... 		01/13/2018 3 prime utr variant benign|uncertain significance infancy <1 / 1 000 000 NDH SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLIS3
Accession:XM_011517763
Location:3UTRS;EXON

Gene Symbol:GLIS3
Accession:XM_011517766
Location:3UTRS;EXON

Gene Symbol:GLIS3
Accession:XM_047422890
Location:3UTRS;EXON

Gene Symbol:GLIS3
Accession:XM_047422889
Location:3UTRS;EXON

Gene Symbol:GLIS3
Accession:XM_011517764
Location:3UTRS;EXON

Gene Symbol:GLIS3
Accession:XM_017014361
Location:3UTRS;EXON

Gene Symbol:GLIS3
Accession:XM_005251386
Location:3UTRS;EXON

Gene Symbol:GLIS3
Accession:NM_152629
Location:3UTRS;EXON

Gene Symbol:GLIS3
Accession:NM_001042413
Location:3UTRS;EXON

Gene Symbol:GLIS3
Accession:XM_047422893
Location:INTRON

Gene Symbol:GLIS3
Accession:XM_047422891
Location:INTRON

Gene Symbol:GLIS3
Accession:XM_047422892
Location:INTRON

Gene Symbol:GLIS3
Accession:XR_007061257
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000269495 CLINVAR
dbSNP (RS) rs117876027 CLINVAR
MedGen C1857775 CLINVAR
NCBI Gene GLIS3 CLINVAR
OMIM 610192 CLINVAR
  610199 CLINVAR