RGD:11648214 Rat Genome Database

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Variant: RGD:11648214 -  Homo sapiens

RGD ID: 11648214
RS ID: rs886048192
ClinVar ID: CV327223
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 31,809,050
GRCh38 11 31,787,502
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.35460A>G
NG_008679.1:g.35460A>G
NC_000011.10:g.31787502T>C
NC_000011.9:g.31809050T>C
More...
01/12/2018 3 prime utr variant 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:ELP4
Accession:NM_001288725
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000280577 CLINVAR
  RCV000295766 CLINVAR
  RCV000334355 CLINVAR
  RCV000338007 CLINVAR
  RCV000349502 CLINVAR
  RCV000387741 CLINVAR
  RCV000400105 CLINVAR
dbSNP (RS) rs886048192 CLINVAR
MedGen C0003076 CLINVAR
  C0206115 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
  69278003 CLINVAR
  715339004 CLINVAR