RGD:10050295 Rat Genome Database

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Variant: RGD:10050295 -  Homo sapiens

RGD ID: 10050295
RS ID: rs540768941
ClinVar ID: CV191707
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QTNF5  MFRP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 119,210,479
GRCh38 11 119,339,769
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012235.1:g.11905C>T
NC_000011.10:g.119339769G>A
NP_056460.1:p.Cys98=
NP_001265360.1:p.Cys98=
More... 		08/18/2020 3 prime utr variant|synonymous variant benign|likely benign|uncertain significance AllHighlyPenetrant; 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: C to * (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLLVLLLLGLAAGSPPLDDNKIPSLCPGHPGLPGTPGHHGSQGLPGRDGRDGRDGAPGAPGEKGEGGRPGLPGPRGDP
GPRGEAGPAGPTGPAGE*SVPPRSAFSAKRSESRVPPPSDAPLPFDRVLVNEQGHYDAVTGKFTCQVPGVYYFAVHATVY
RASLQFDLVKNGESIASFFQFFGGWPKPASLSGGAMVRLEPEDQVWVQVGVGDYIGIYASIKTDSTFSGFLVYSDWHSSP
VFA*

Gene Symbol:C1QTNF5
Accession:NM_001278431
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLLVLLLLGLAAGSPPLDDNKIPSLCPGHPGLPGTPGHHGSQGLPGRDGRDGRDGAPGAPGEKGEGGRPGLPGPRGDP
GPRGEAGPAGPTGPAGE*SVPPRSAFSAKRSESRVPPPSDAPLPFDRVLVNEQGHYDAVTGKFTCQVPGVYYFAVHATVY
RASLQFDLVKNGESIASFFQFFGGWPKPASLSGGAMVRLEPEDQVWVQVGVGDYIGIYASIKTDSTFSGFLVYSDWHSSP
VFA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000174932 CLINVAR
  RCV001106720 CLINVAR
  RCV001106721 CLINVAR
  RCV001521423 CLINVAR
dbSNP (RS) rs540768941 CLINVAR
MedGen C1854065 CLINVAR
  C1970236 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene C1QTNF5 CLINVAR
  MFRP CLINVAR
OMIM 605670 CLINVAR
  606227 CLINVAR
  608752 CLINVAR
  611040 CLINVAR