RGD:28868400 Rat Genome Database

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Variant: RGD:28868400 -  Homo sapiens

RGD ID: 28868400
RS ID: rs1787093147
ClinVar ID: CV898082
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLI3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 42,003,855
GRCh38 7 41,964,257
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000168.6:c.*73C>T
NC_000007.14:g.41964257G>A
NC_000007.13:g.42003855G>A
NM_000168.5:c.*73C>T
More... 		03/30/2018 3 prime utr variant uncertain significance Extra digits; Greig syndrome; Hyperdactyly; 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:XM_047420207
Location:3UTRS;EXON

Gene Symbol:GLI3
Accession:NM_000168
Location:3UTRS;EXON

Gene Symbol:GLI3
Accession:XM_047420206
Location:3UTRS;EXON

Gene Symbol:GLI3
Accession:XM_047420205
Location:3UTRS;EXON

Gene Symbol:GLI3
Accession:XM_047420209
Location:3UTRS;EXON

Gene Symbol:GLI3
Accession:XM_017011997
Location:3UTRS;EXON

Gene Symbol:GLI3
Accession:XM_011515274
Location:3UTRS;EXON

Gene Symbol:GLI3
Accession:XM_047420208
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001162462 CLINVAR
  RCV001164508 CLINVAR
dbSNP (RS) rs1787093147 CLINVAR
MedGen C0152427 CLINVAR
  C0265306 CLINVAR
NCBI Gene GLI3 CLINVAR
OMIM 165240 CLINVAR
  175700 CLINVAR
  603596 CLINVAR
SNOMED CT 32985001 CLINVAR
  367506006 CLINVAR