RGD:28900461 Rat Genome Database

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Variant: RGD:28900461 -  Homo sapiens

RGD ID: 28900461
RS ID: rs1269133831
ClinVar ID: CV867822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 31,806,698
GRCh38 11 31,785,150
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001288725.2:c.*1612G>A
NM_019040.5:c.*1626G>A
NM_001288726.2:c.*1721G>A
LRG_720:g.37812C>T
More... 		01/12/2018 3 prime utr variant uncertain significance Anophthalmia - microphthalmia; Anophthalmia/Microphthalmia; 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
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 RCV001103844 CLINVAR
  RCV001103845 CLINVAR
  RCV001103846 CLINVAR
  RCV001107477 CLINVAR
dbSNP (RS) rs1269133831 CLINVAR
MedGen C0663995 CLINVAR
  C1835698 CLINVAR
  C3805604 CLINVAR
  C5680330 CLINVAR
NCBI Gene ELP4 CLINVAR
  PAX6 CLINVAR
OMIM 136520 CLINVAR
  148190 CLINVAR
  606985 CLINVAR
  607108 CLINVAR
SNOMED CT 715339004 CLINVAR