RGD:28870166 Rat Genome Database

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Variant: RGD:28870166 -  Homo sapiens

RGD ID: 28870166
RS ID: rs74376818
ClinVar ID: CV900363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLI3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 42,116,463
GRCh38 7 42,076,864
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.42076864A>C
NM_000168.6:c.368-7T>G
NG_008434.1:g.165156T>G
NC_000007.13:g.42116463A>C
More... 		12/25/2021 intron variant benign|likely benign Extra digits; Greig syndrome; Hyperdactyly; Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly; Pallister-Hall syndrome; 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_047420206
Location:INTRON

Gene Symbol:GLI3
Accession:NM_000168
Location:INTRON

Gene Symbol:GLI3
Accession:XM_047420207
Location:INTRON

Gene Symbol:GLI3
Accession:XM_047420205
Location:INTRON

Gene Symbol:GLI3
Accession:XM_047420209
Location:INTRON

Gene Symbol:GLI3
Accession:XM_011515274
Location:INTRON

Gene Symbol:GLI3
Accession:XM_047420208
Location:INTRON

Gene Symbol:GLI3
Accession:XM_017011997
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001163413 CLINVAR
  RCV001163414 CLINVAR
  RCV001163415 CLINVAR
  RCV002558569 CLINVAR
dbSNP (RS) rs74376818 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