RGD:14743930 Rat Genome Database

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Variant: RGD:14743930 -  Homo sapiens

RGD ID: 14743930
RS ID: rs766046559
ClinVar ID: CV665999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX6  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 31,824,394
GRCh38 11 31,802,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127612.3:c.11-12C>G
NM_001258462.3:c.11-12C>G
NM_001258463.2:c.11-12C>G
NM_001258464.2:c.11-12C>G
More... 		03/26/2018 5 prime utr variant likely benign ANTERIOR SEGMENT DYSGENESIS 5; Irido-corneo-trabecular dysgenesis; none provided
Disease Annotations     Click to see Annotation Detail View
aniridia 1  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PAX6
Accession:NM_001368907
Location:5UTRS;EXON

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

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

Gene Symbol:PAX6
Accession:NM_001368902
Location:5UTRS;EXON

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

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

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

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

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

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

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

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

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

Gene Symbol:PAX6
Accession:NM_001368906
Location:5UTRS;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_001368919
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368922
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368928
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368916
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368913
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368924
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258465
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368910
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368923
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368887
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368921
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368889
Location:INTRON

Gene Symbol:PAX6
Accession:NM_000280
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310158
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368888
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001604
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258462
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368914
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368917
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368892
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368920
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001127612
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368890
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258463
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368891
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368930
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258464
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368915
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368894
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368911
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310159
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368893
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368927
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368918
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 RCV000842406 CLINVAR
  RCV002068621 CLINVAR
dbSNP (RS) rs766046559 CLINVAR
MedGen C0344542 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAX6 CLINVAR
OMIM 106210 CLINVAR
  604229 CLINVAR
  607108 CLINVAR
SNOMED CT 204153003 CLINVAR