RGD:38458533 Rat Genome Database

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Variant: RGD:38458533 -  Homo sapiens

RGD ID: 38458533
RS ID: rs755272017
ClinVar ID: CV960750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QTNF5  MFRP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,216,755
GRCh38 11 119,346,045
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.119216755C>T
NM_015645.5:c.-2366+1G>A
NM_031433.4:c.271+1G>A
NG_012235.1:g.5629G>A
More...
10/30/2019 splice donor variant pathogenic|likely pathogenic Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C1QTNF5
Accession:NM_015645
Location:5UTRS;INTRON

Gene Symbol:MFRP
Accession:NM_031433
Location:INTRON

Gene Symbol:C1QTNF5
Accession:NM_001278431
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12140190   PMID:15976030   PMID:16199547   PMID:20361016   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001246358 CLINVAR
dbSNP (RS) rs755272017 CLINVAR
MedGen C1970236 CLINVAR
NCBI Gene C1QTNF5 CLINVAR
  MFRP CLINVAR
OMIM 606227 CLINVAR
  608752 CLINVAR
  611040 CLINVAR