RGD:11612809 Rat Genome Database

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Variant: RGD:11612809 -  Homo sapiens

RGD ID: 11612809
RS ID: rs530259403
ClinVar ID: CV326272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP4  PAX6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 31,810,591
GRCh38 11 31,789,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_720:g.33919G>A
NG_008679.1:g.33919G>A
NC_000011.10:g.31789043C>T
NC_000011.9:g.31810591C>T
More... 		01/12/2018 3 prime utr variant benign|likely benign|uncertain significance adult|childhood|neonatal 1-9 / 1 000 000|<1 / 1 000 000 11p deletion syndrome; Anophthalmia - microphthalmia; Anophthalmia/Microphthalmia; Chromosome 11p deletion syndrome; CHROMOSOME 11p13 DELETION SYNDROME; Dominantly inherited keratitis; FOVEAL HYPOPLASIA 1 WITH ANTERIOR SEGMENT ANOMALIES; FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT; Foveal hypoplasia and presenile cataract syndrome; Keratitis, hereditary; WAGR Complex; WAGR syndrome; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELP4
Accession:NM_019040
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001310160
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368914
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368905
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001258463
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001258464
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368894
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368892
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368925
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368924
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368929
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368903
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368921
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368893
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368927
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368904
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368920
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368930
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368918
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001604
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368887
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368907
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368917
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368906
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368912
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368916
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368913
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368908
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_000280
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368891
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368926
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001127612
Location:3UTRS;EXON

Gene Symbol:ELP4
Accession:NM_001288726
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368919
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368890
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368922
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368909
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368901
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368900
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001310158
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001310161
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368915
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001258462
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001258465
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368923
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368911
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368910
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368928
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368889
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368902
Location:3UTRS;EXON

Gene Symbol:ELP4
Accession:NM_001288725
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368888
Location:3UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368899
Location:3UTRS;EXON

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

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

Gene Symbol:PAX6
Accession:NM_001310159
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000262557 CLINVAR
  RCV000268406 CLINVAR
  RCV000302550 CLINVAR
  RCV000308213 CLINVAR
  RCV000359529 CLINVAR
  RCV000360559 CLINVAR
  RCV000402118 CLINVAR
dbSNP (RS) rs530259403 CLINVAR
MedGen C0206115 CLINVAR
  C0344542 CLINVAR
  C0663995 CLINVAR
  C1835698 CLINVAR
  C3805604 CLINVAR
  C5680330 CLINVAR
  CN239197 CLINVAR
NCBI Gene ELP4 CLINVAR
  PAX6 CLINVAR
OMIM 106210 CLINVAR
  136520 CLINVAR
  148190 CLINVAR
  194072 CLINVAR
  606985 CLINVAR
  607108 CLINVAR
SNOMED CT 4135001 CLINVAR
  715339004 CLINVAR