RGD:11050281 Rat Genome Database

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Variant: RGD:11050281 -  Homo sapiens

RGD ID: 11050281
RS ID: rs80358284
ClinVar ID: CV226404
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FZD4  PRSS23  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 86,663,485
GRCh38 11 86,952,443
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_011752.1:g.7949A>G
NC_000011.10:g.86952443T>C
NC_000011.9:g.86663485T>C
NP_036325.2:p.Met105Val
More... 		06/06/2020 missense variant pathogenic childhood <1 / 1 000 000 Anderson-Warburg syndrome; Coats disease; Criswick-Schepens syndrome; Episkopi blindness; Familial exudative vitreoretinopathy; Familial exudative vitreoretinopathy, autosomal dominant; Fetal iritis syndrome; FEVR, AUTOSOMAL DOMINANT; none provided; Norrie Disease; Norrie Disease (ND); Norrie syndrome; Norrie-Warburg syndrome; Pseudoglioma; Retinal telangiectasis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FZD4
Accession:NM_012193
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWRGAGPSVPGAPGGVGLSLGLLLQLLLLLGPARGFGDEEERRCDPIRISMCQNLGYNVTKMPNLVGHELQTDAELQLT
TFTPLIQYGCSSQLQFFLCSVYVPLCTEKINIPIGPCGGMCLSVKRRCEPVLKEFGFAWPESLNCSKFPPQNDHNHMCME
GPGDEEVPLPHKTPIQPGEECHSVGTNSDQYIWVKRSLNCVLKCGYDAGLYSRSAKEFTDIWMAVWASLCFISTAFTVLT
FLIDSSRFSYPERPIIFLSMCYNIYSIAYIVRLTVGRERISCDFEEAAEPVLIQEGLKNTGCAIIFLLMYFFGMASSIWW
VILTLTWFLAAGLKWGHEAIEMHSSYFHIAAWAIPAVKTIVILIMRLVDADELTGLCYVGNQNLDALTGFVVAPLFTYLV
IGTLFIAAGLVALFKIRSNLQKDGTKTDKLERLMVKIGVFSVLYTVPATCVIACYFYEISNWALFRYSADDSNMAVEMLK
IFMSLLVGITSGMWIWSAKTLHTWQKCSNRLVNSGKVKREKRGNGWVKPGKGSETVV*

Gene Symbol:PRSS23
Accession:NR_120592
Location:EXON;NON-CODING

Gene Symbol:PRSS23
Accession:NR_120591
Location:EXON;NON-CODING

Gene Symbol:PRSS23
Accession:NM_007173
Location:INTRON

Gene Symbol:PRSS23
Accession:NM_001293180
Location:INTRON

Gene Symbol:PRSS23
Accession:NM_001293179
Location:INTRON

Gene Symbol:PRSS23
Accession:NR_120593
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:14507768   PMID:15035989   PMID:17955262   PMID:20340138   PMID:20938005   PMID:24033266   PMID:24744206   PMID:25711638   PMID:25741868   PMID:26908610   PMID:27316669   PMID:28492532  
PMID:30452590   PMID:31294129  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210241 CLINVAR
  RCV000255410 CLINVAR
  RCV000763285 CLINVAR
  RCV000825614 CLINVAR
  RCV001002698 CLINVAR
  RCV001073502 CLINVAR
  RCV003907780 CLINVAR
dbSNP (RS) rs80358284 CLINVAR
MedGen C0154832 CLINVAR
  C0266526 CLINVAR
  C0339539 CLINVAR
  C0854723 CLINVAR
  C1851402 CLINVAR
  C3661900 CLINVAR
NCBI Gene FZD4 CLINVAR
  PRSS23 CLINVAR
OMIM 133780 CLINVAR
  300216 CLINVAR
  310600 CLINVAR
  604579 CLINVAR
  618376 CLINVAR
SNOMED CT 15228007 CLINVAR
  232063007 CLINVAR
  25506007 CLINVAR
  314407005 CLINVAR