RGD:10052236 Rat Genome Database

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Variant: RGD:10052236 -  Homo sapiens

RGD ID: 10052236
RS ID: rs4639950
ClinVar ID: CV194518
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QTNF5  MFRP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 119,216,555
GRCh38 11 119,345,845
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.5829A>G
NC_000011.10:g.119345845T>C
NP_113621.1:p.Ile119Val
Q9BY79:p.Ile119Val
More... 		12/31/2019 5 prime utr variant|missense variant benign|likely benign AllHighlyPenetrant; NANOPHTHALMIA 2; Nanophthalmos 2; NANOPHTHALMOS, AUTOSOMAL RECESSIVE; Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen; RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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

Gene Symbol:MFRP
Accession:NM_031433
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDASYSVPAPWHGRRPRGLRPDCRFSWLCVLLLSSLLLLL
LGLLVAIILAQLQAAPPSGASHSPLPAGGLTTTTTTPTLTTSQAAGTPKGQQESGVSPSPQSTCGGLLSGPRGFFSSPNY
PDPYPPNTHCVWHIQVATDHAIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGRVPPPTLNTNASHLLVVFVSDSS
VEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPDSVCDGFANCADGSDETNCSAKFSGCGGNLTGLQGTFSTPSYLQQ
YPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVSSHHELAVLFRTDH
GISSGGFSATYLAFNATENPCGPSELSCQAGGCKGVQWMCDMWRDCTDGSDDNCSGPLFPPPELACEPVQVEMCLGLSYN
TTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRSVCQEAEHQCQSGLALLGTPW
PFNCNRLPEAADLEACAQP*

Gene Symbol:C1QTNF5
Accession:NM_001278431
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000178370 CLINVAR
  RCV000334278 CLINVAR
  RCV000877864 CLINVAR
  RCV001107826 CLINVAR
  RCV002492783 CLINVAR
dbSNP (RS) rs4639950 CLINVAR
MedGen C0035304 CLINVAR
  C1854065 CLINVAR
  C1970236 CLINVAR
  CN169374 CLINVAR
NCBI Gene C1QTNF5 CLINVAR
  MFRP CLINVAR
OMIM 605670 CLINVAR
  606227 CLINVAR
  608752 CLINVAR
  609549 CLINVAR
  611040 CLINVAR