RGD:15173693 Rat Genome Database

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Variant: RGD:15173693 -  Homo sapiens

RGD ID: 15173693
RS ID: rs1592542002
ClinVar ID: CV789073
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 31,823,104
GRCh38 11 31,801,556
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001368907.2:c.-52+5G>A
NM_001368908.2:c.-52+5G>A
NM_001127612.3:c.357+5G>A
NM_001258464.2:c.357+5G>A
More... 		02/23/2023 5 prime utr variant likely pathogenic|uncertain significance ANTERIOR SEGMENT DYSGENESIS 5
Disease Annotations     Click to see Annotation Detail View
aniridia 1  (IAGP)
Peters anomaly  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PAX6
Accession:NM_001368902
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368905
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001310160
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368904
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001310161
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368907
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368929
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368903
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368909
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368906
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368901
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368899
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368900
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368908
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001604
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368925
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368891
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368924
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368922
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368913
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368919
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368887
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368914
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368917
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310159
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368888
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368926
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368911
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258463
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310158
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001127612
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368910
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368920
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368889
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368921
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368912
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368892
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258464
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368928
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368890
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368894
Location:INTRON

Gene Symbol:PAX6
Accession:NM_000280
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258462
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258465
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368923
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368915
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368893
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368927
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368916
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368918
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368930
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000984404 CLINVAR
  RCV003152740 CLINVAR
dbSNP (RS) rs1592542002 CLINVAR
MedGen C0344542 CLINVAR
  C0344559 CLINVAR
NCBI Gene PAX6 CLINVAR
OMIM 106210 CLINVAR
  604229 CLINVAR
  607108 CLINVAR
SNOMED CT 204153003 CLINVAR