RGD:11614699 Rat Genome Database

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Variant: RGD:11614699 -  Homo sapiens

RGD ID: 11614699
RS ID: rs868687394
ClinVar ID: CV325770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QTNF5  MFRP  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,217,076
GRCh38 11 119,346,366
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031433.3:c.63C>A
NG_012235.1:g.5308C>A
NC_000011.10:g.119346366G>T
NC_000011.9:g.119217076G>T
More... 		06/14/2016 5 prime utr variant uncertain significance 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: F to F (synonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDASYSVPAPWHGRRPRGLRPDCRFSWLCVLLLSSLLLLL
LGLLVAIILAQLQAAPPSGASHSPLPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSPQSTCGGLLSGPRGFFSSPNY
PDPYPPNTHCVWHIQVATDHAIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGRVPPPTLNTNASHLLVVFVSDSS
VEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPDSVCDGFANCADGSDETNCSAKFSGCGGNLTGLQGTFSTPSYLQQ
YPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVSSHHELAVLFRTDH
GISSGGFSATYLAFNATENPCGPSELSCQAGGCKGVQWMCDMWRDCTDGSDDNCSGPLFPPPELACEPVQVEMCLGLSYN
TTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRSVCQEAEHQCQSGLALLGTPW
PFNCNRLPEAADLEACAQP*

Gene Symbol:C1QTNF5
Accession:NM_001278431
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000279015 CLINVAR
  RCV001107918 CLINVAR
  RCV001107919 CLINVAR
dbSNP (RS) rs868687394 CLINVAR
MedGen C0035304 CLINVAR
  C1854065 CLINVAR
  C1970236 CLINVAR
NCBI Gene C1QTNF5 CLINVAR
  MFRP CLINVAR
OMIM 605670 CLINVAR
  606227 CLINVAR
  608752 CLINVAR
  611040 CLINVAR