RGD:28871848 Rat Genome Database

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Variant: RGD:28871848 -  Homo sapiens

RGD ID: 28871848
RS ID: rs181197472
ClinVar ID: CV889944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PITX2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 111,558,288
GRCh38 4 110,637,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204398.1:c.-10-4124C>G
NM_001204399.1:c.-10-4124C>G
NC_000004.12:g.110637132G>C
NC_000004.11:g.111558288G>C
More... 		01/13/2018 5 prime utr variant|intron variant benign|likely benign 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_001204399
Location:5UTRS;INTRON

Gene Symbol:PITX2
Accession:NM_001204398
Location:5UTRS;INTRON

Gene Symbol:PITX2
Accession:XM_024454090
Location:INTRON

Gene Symbol:PITX2
Accession:NM_153427
Location:INTRON

Gene Symbol:PITX2
Accession:NM_001204397
Location:INTRON

Gene Symbol:PITX2
Accession:NM_000325
Location:INTRON

Gene Symbol:PITX2
Accession:NM_153426
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001146034 CLINVAR
  RCV001148816 CLINVAR
  RCV001148817 CLINVAR
  RCV001148818 CLINVAR
  RCV001148819 CLINVAR
  RCV001148820 CLINVAR
  RCV001148821 CLINVAR
dbSNP (RS) rs181197472 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