RGD:15179322 Rat Genome Database

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Variant: RGD:15179322 -  Homo sapiens

RGD ID: 15179322
RS ID: rs145152785
ClinVar ID: CV701275
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VIM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 17,275,797
GRCh38 10 17,233,798
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003380.5:c.749A>G
NG_012413.1:g.10540A>G
NC_000010.11:g.17233798A>G
NC_000010.10:g.17275797A>G
More... 		07/26/2018 missense variant likely benign CATARACT 30, PULVERULENT
Disease Annotations     Click to see Annotation Detail View
cataract 30  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:VIM
Accession:NM_003380
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTRSVSSSSYRRMFGGPGTASRPSSSRSYVTTSTRTYSLGSALRPSTSRSLYASSPGGVYATRSSAVRLRSSVPGVRLL
QDSVDFSLADAINTEFKNTRTNEKVELQELNDRFANYIDKVRFLEQQNKILLAELEQLKGQGKSRLGDLYEEEMRELRRQ
VDQLTNDKARVEVERDNLAEDIMRLREKLQEEMLQREEAENTLQSFRQDVDNASLARLDLERKVESLQEEIAFLKKLHEE
EIQELQAQIREQHVQIDVDVSKPDLTAALRDVRQQYESVAAKNLQEAEEWYKSKFADLSEAANRNNDALRQAKQESTEYR
RQVQSLTCEVDALKGTNESLERQMREMEENFAVEAANYQDTIGRLQDEIQNMKEEMARHLREYQDLLNVKMALDIEIATY
RKLLEGEESRISLPLPNFSSLNLRETNLDSLPLVDTHSKRTLLIKTVETRDGQVINETSQHHDDLE*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002547220 CLINVAR
  RCV003943035 CLINVAR
dbSNP (RS) rs145152785 CLINVAR
MedGen C3805411 CLINVAR
NCBI Gene VIM CLINVAR
OMIM 116300 CLINVAR
  193060 CLINVAR