RGD:14712256 Rat Genome Database

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Variant: RGD:14712256 -  Homo sapiens

RGD ID: 14712256
RS ID: rs1578450728
ClinVar ID: CV651151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PITX2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 111,542,318
GRCh38 4 110,621,162
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000325.6:c.411+2T>G
NM_001204398.1:c.390+2T>G
NG_007120.1:g.21191T>G
NC_000004.12:g.110621162A>C
More...
09/12/2018 splice donor variant pathogenic ANTERIOR SEGMENT DYSGENESIS 4; Iridogoniodysgenesis syndrome; Iridogoniodysgenesis type 2; Iridogoniodysgenesis, dominant type; Iris hypoplasia with early onset glaucoma, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PITX2
Accession:NM_001204399
Location:INTRON

Gene Symbol:PITX2
Accession:NM_001204398
Location:INTRON

Gene Symbol:PITX2
Accession:NM_153427
Location:INTRON

Gene Symbol:PITX2
Accession:NM_153426
Location:INTRON

Gene Symbol:PITX2
Accession:NM_001204397
Location:INTRON

Gene Symbol:PITX2
Accession:NM_000325
Location:INTRON

Gene Symbol:PITX2
Accession:XM_024454090
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:10490637   PMID:15728254   PMID:17576681   PMID:18045789   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000820117 CLINVAR
dbSNP (RS) rs1578450728 CLINVAR
MedGen C3714873 CLINVAR
NCBI Gene PITX2 CLINVAR
OMIM 137600 CLINVAR
  180500 CLINVAR
  601542 CLINVAR