RGD:11647208 Rat Genome Database

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Variant: RGD:11647208 -  Homo sapiens

RGD ID: 11647208
RS ID: rs886059002
ClinVar ID: CV296774
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PITX2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 111,538,670
GRCh38 4 110,617,514
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
NG_007120.1:g.24839A>G
NC_000004.12:g.110617514T>C
NC_000004.11:g.111538670T>C
NM_001204398.1:c.*611A>G
More... 		06/14/2016 3 prime utr variant uncertain significance infancy|neonatal <1 / 1 000 000 ANTERIOR SEGMENT DYSGENESIS 5; Bilateral, annular limbal dermoids with corneal and conjunctival extension; Cataract (disease); Iridogoniodysgenesis syndrome; Iridogoniodysgenesis type 2; Iridogoniodysgenesis, dominant type; Iris hypoplasia with early onset glaucoma, autosomal dominant; Ring dermoid syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PITX2
Accession:NM_001204398
Location:3UTRS;EXON

Gene Symbol:PITX2
Accession:XM_024454090
Location:3UTRS;EXON

Gene Symbol:PITX2
Accession:NM_153427
Location:3UTRS;EXON

Gene Symbol:PITX2
Accession:NM_000325
Location:3UTRS;EXON

Gene Symbol:PITX2
Accession:NM_001204397
Location:3UTRS;EXON

Gene Symbol:PITX2
Accession:NM_001204399
Location:3UTRS;EXON

Gene Symbol:PITX2
Accession:NM_153426
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000275334 CLINVAR
  RCV000276615 CLINVAR
  RCV000282594 CLINVAR
  RCV000317669 CLINVAR
  RCV000330342 CLINVAR
  RCV000371012 CLINVAR
  RCV000372418 CLINVAR
dbSNP (RS) rs886059002 CLINVAR
MedGen C0086543 CLINVAR
  C0344539 CLINVAR
  C0344559 CLINVAR
  C1842031 CLINVAR
  C1867155 CLINVAR
  C3714873 CLINVAR
  CN239168 CLINVAR
NCBI Gene PITX2 CLINVAR
OMIM 137600 CLINVAR
  180500 CLINVAR
  180550 CLINVAR
  601542 CLINVAR
  604229 CLINVAR
SNOMED CT 204153003 CLINVAR