RGD:11645413 Rat Genome Database

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Variant: RGD:11645413 -  Homo sapiens

RGD ID: 11645413
RS ID: rs886062342
ClinVar ID: CV303053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLI3  LOC127408961  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 42,276,605
GRCh38 7 42,237,006
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
NG_008434.1:g.5014G>T
NC_000007.14:g.42237006C>A
NC_000007.13:g.42276605C>A
NM_000168.6:c.-78G>T
More... 		06/14/2016 5 prime utr variant uncertain significance infancy|neonatal 1-9 / 1 000 000|<1 / 1 000 000 Extra digits; Greig syndrome; Hyperdactyly; Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly; Polydactylia; Polydactylism; Polysyndactyly with peculiar skull shape; Supernumerary digits
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Polydactyly  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:GLI3
Accession:NM_000168
Location:5UTRS;EXON

Gene Symbol:GLI3
Accession:XM_047420205
Location:5UTRS;INTRON

Gene Symbol:GLI3
Accession:XM_047420208
Location:5UTRS;INTRON

Gene Symbol:GLI3
Accession:XM_047420207
Location:5UTRS;INTRON

Gene Symbol:GLI3
Accession:XM_011515274
Location:INTRON

Gene Symbol:GLI3
Accession:XM_047420209
Location:INTRON

Gene Symbol:GLI3
Accession:XM_017011997
Location:INTRON

Gene Symbol:GLI3
Accession:XM_047420206
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265471 CLINVAR
  RCV000301835 CLINVAR
  RCV000361352 CLINVAR
dbSNP (RS) rs886062342 CLINVAR
MedGen C0152427 CLINVAR
  C0265220 CLINVAR
  C0265306 CLINVAR
NCBI Gene GLI3 CLINVAR
OMIM 146510 CLINVAR
  165240 CLINVAR
  175700 CLINVAR
  603596 CLINVAR
SNOMED CT 32985001 CLINVAR
  367506006 CLINVAR
  56677004 CLINVAR