RGD:402490896 Rat Genome Database

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Variant: RGD:402490896 -  Homo sapiens

RGD ID: 402490896
ClinVar ID: CV3091017
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX6  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 31,816,171
GRCh38 11 31,794,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001310160.2:c.274+7G>C
NM_001310161.3:c.274+7G>C
NM_001368899.2:c.274+7G>C
NM_001368900.2:c.274+7G>C
More... 		05/05/2023 intron variant likely benign ANTERIOR SEGMENT DYSGENESIS 5; Irido-corneo-trabecular dysgenesis
Disease Annotations     Click to see Annotation Detail View
aniridia 1  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PAX6
Accession:NM_001604
Location:INTRON

Gene Symbol:PAX6
Accession:NM_000280
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258463
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368894
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368904
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368930
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368923
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368887
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368907
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368903
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368926
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368912
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368925
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258462
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368900
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368902
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368909
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368913
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368929
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368901
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368893
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368908
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001127612
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258465
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368919
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368916
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368905
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368891
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258464
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310158
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310159
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368911
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368928
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368920
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368889
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368906
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368917
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368918
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368924
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368921
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368890
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368888
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368914
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368910
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368892
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368915
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368922
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368899
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368927
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310161
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310160
Location:INTRON

Gene Symbol:PAX6
Accession:NR_160916
Location:INTRON;NON-CODING

Gene Symbol:PAX6
Accession:NR_160917
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003787521 CLINVAR
MedGen C0344542 CLINVAR
NCBI Gene PAX6 CLINVAR
OMIM 106210 CLINVAR
  604229 CLINVAR
  607108 CLINVAR
SNOMED CT 204153003 CLINVAR