RGD:156212624 Rat Genome Database

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Variant: RGD:156212624 -  Homo sapiens

RGD ID: 156212624
ClinVar ID: CV2142075
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLI3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 42,187,806
GRCh38 7 42,148,207
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008434.1:g.93813C>T
NC_000007.14:g.42148207G>A
NC_000007.13:g.42187806G>A
NM_000168.6:c.367+19C>T
More... 		09/18/2022 intron variant likely benign Greig syndrome; Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly; Pallister-Hall syndrome; Polysyndactyly with peculiar skull shape
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLI3
Accession:NM_000168
Location:INTRON

Gene Symbol:GLI3
Accession:XM_011515274
Location:INTRON

Gene Symbol:GLI3
Accession:XM_017011997
Location:INTRON

Gene Symbol:GLI3
Accession:XM_047420208
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_047420206
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002985653 CLINVAR
MedGen C0265306 CLINVAR
NCBI Gene GLI3 CLINVAR
OMIM 146510 CLINVAR
  165240 CLINVAR
  175700 CLINVAR
SNOMED CT 32985001 CLINVAR