RGD:26887715 Rat Genome Database

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Variant: RGD:26887715 -  Homo sapiens

RGD ID: 26887715
RS ID: rs146971652
ClinVar ID: CV838078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QTNF5  MFRP  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,210,380
GRCh38 11 119,339,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031433.4:c.*1289C>A
NM_001278431.2:c.393C>A
NP_001265360.1:p.Asn131Lys
NM_031433.3:c.*1289C>A
More... 		12/16/2019 3 prime utr variant uncertain significance none provided; Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen; RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFRP
Accession:NM_031433
Location:3UTRS;EXON

Gene Symbol:C1QTNF5
Accession:NM_015645
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLLVLLLLGLAAGSPPLDDNKIPSLCPGHPGLPGTPGHHGSQGLPGRDGRDGRDGAPGAPGEKGEGGRPGLPGPRGDP
GPRGEAGPAGPTGPAGECSVPPRSAFSAKRSESRVPPPSDAPLPFDRVLVNEQGHYDAVTGKFTCQVPGVYYFAVHATVY
RASLQFDLVKNGESIASFFQFFGGWPKPASLSGGAMVRLEPEDQVWVQVGVGDYIGIYASIKTDSTFSGFLVYSDWHSSP
VFA*

Gene Symbol:C1QTNF5
Accession:NM_001278431
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLLVLLLLGLAAGSPPLDDNKIPSLCPGHPGLPGTPGHHGSQGLPGRDGRDGRDGAPGAPGEKGEGGRPGLPGPRGDP
GPRGEAGPAGPTGPAGECSVPPRSAFSAKRSESRVPPPSDAPLPFDRVLVNEQGHYDAVTGKFTCQVPGVYYFAVHATVY
RASLQFDLVKNGESIASFFQFFGGWPKPASLSGGAMVRLEPEDQVWVQVGVGDYIGIYASIKTDSTFSGFLVYSDWHSSP
VFA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001056719 CLINVAR
  RCV001105573 CLINVAR
  RCV001105574 CLINVAR
dbSNP (RS) rs146971652 CLINVAR
MedGen C1854065 CLINVAR
  C1970236 CLINVAR
  C3661900 CLINVAR
NCBI Gene C1QTNF5 CLINVAR
  MFRP CLINVAR
OMIM 605670 CLINVAR
  606227 CLINVAR
  608752 CLINVAR
  611040 CLINVAR